ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5285del (p.Arg1762fs)

dbSNP: rs1808742803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Program, Stanford Medicine RCV001253785 SCV001427089 likely pathogenic FLNC-associated cardiomyopathy 2019-10-16 no assertion criteria provided clinical testing The p.Arg1762Profs*21 variant in the FLNC gene has not been previously reported in association with disease. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The p.Arg1762Profs*21 variant results in a 1 bp deletion, which causes a shift in the protein reading frame, leading to a premature termination codon 21 amino acids downstream. Heterozygous loss of function is an established mechanism of disease for the FLNC gene. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, there is sufficient evidence to classify the p.Arg1762Profs*21 variant as likely pathogenic for FLNC-associated cardiomyopathy in an autosomal dominant manner based on the information above. [ACMG evidence codes used: PVS1; PM2]

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