Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV004799595 | SCV001468810 | uncertain significance | Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 | 2019-05-30 | criteria provided, single submitter | clinical testing | The inherited c.98917A>G (p.Ile32973Val) variant identified in this individual substitutes a moderately conserved Isoleucine for Valine at amino acid 32973/35992 (coding exon 353/363). This variant is found a single time in gnomAD (1 heterozygote, 0 homozygotes; allele frequency: 4.023e-6) and once in ExAC (1 heterozygote, 0 homozytoes; allele frequency: 8.294e-06). In silico algorithms predict this variant is Neutral (Provean; score: -0.37) and Tolerated (SIFT; socre 0.668) to the function of the canonical transcript. The variant is absent from ClinVar, and to our current knowledge has not been identified in affected individuals in the literature. Given the lack of compelling evidence for the pathogenicity of the inherited c.98917A>G (p.Ile32973Val) variant identified here, it is reported as a Variant of Uncertain Significance. |