2013-ACMG-NGS报告模板.pdfVIP

Molecular Diagnostic Laboratory 18 Sequencing St, Gene Town, ZY 01234 Tel: 555-920-3333 Fax: 555-920-3334 Patient Name: Jane Doe Specimen type: Blood, peripheral DOB: 04/05/1990 Date specimen obtained: 04/01/2012 Lab Accession: 0123245678 Date specimen received: 04/03/2012 Pedigree #: P9999999 Referring physician John Smith, MD Gender: Female Referring facility Regional Hospital Race: White Referring facility MRN: 1225 TEST PERFORMED - Pan Cardiomyopathy Panel (51 Genes) INDICATION FOR TEST - Clinical diagnosis and family history of dilated cardiomyopathy (DCM) RESULT: Positive - An established cause of the reported phenotype was identified DNA VARIANTS: RBM20, Heterozygous c.1913CT (p.Pro638Leu), Exon 9, Pathogenic SGCD, Heterozygous c.390delA (p.Ala131fs), Exon 6, Likely Pathogenic TTN, Heterozygous c.97886GA (p.Gly32629Asp), Exon 307, Uncertain Significance INTERPRETATION SUMMARY: This individual carries one previously published pathogenic DCM variant (a missense variant in RBM20). In addition, one loss-of function variant in the SGCD gene was detected. Homozygous loss of function variants in SGCD are known to cause Limb-Girdle muscular dystrophy and this individual is likely a carrier for this disease. However, the role of heterozygous SGCD variants in autosomal dominant DCM without muscular involvement is not clear and therefore a contribution to disease severity cannot be ruled out. See below f