ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4354-7C>T (rs370093487)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000629073 SCV000564452 uncertain significance Hypertrophic cardiomyopathy 2016-12-15 reviewed by expert panel curation The c.4354-7C>T variant in MYH7 has been reported in 2 individuals with hypertrophic cardiomyopathy (PS4_Supporting; Partners LMM ClinVar SCV000059556.5). This variant has been identified in 3/66414 European chromosomes by ExAC (PM2; http://exac.broadinstitute.org). This variant is located in the 3' splice region and computational tools do not predict an impact on splicing, though this information is not predictive enough to rule out pathogenicity (BP7). In summary, this variant meets criteria to be classified as uncertain significance for hypertrophic cardiomyopathy in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (PMID:29300372): PM2; PS4_ Supporting; BP7
GeneDx RCV000035905 SCV000170535 benign not specified 2013-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000629073 SCV000749986 likely benign Hypertrophic cardiomyopathy 2017-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035905 SCV000059556 uncertain significance not specified 2011-07-25 criteria provided, single submitter clinical testing The 4354-7C>T variant has not been reported in the literature. This variant has been identified by our laboratory in two individuals with a clinical diagnosis a nd family history of HCM. Of note, this variant did not segregate with the famil y history of HCM in one of these family. The 4354-7C>T variant is located in the 3' splice acceptor region but does not affect the highly conserved -1 and -2 po sitions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions can sometimes affect splicing. T herefore, the clinical significance of this variant cannot be determined at this time.

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