ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.49C>T (p.Arg17Cys)

gnomAD frequency: 0.00001  dbSNP: rs1131691313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494494 SCV000581844 uncertain significance not provided 2024-05-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has been reported in a male proband who was diagnosed with familial DCM and underwent heart transplantation at age 40; while the proband had a family history of DCM and sudden cardiac death, available segregation data was uninformative (PMID: 26899768); This variant is associated with the following publications: (PMID: 26899768)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224300 SCV003920243 uncertain significance Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-03-30 criteria provided, single submitter clinical testing MYH6 NM_002471.3 exon 3 p.Arg17Cys (c.49C>T): This variant has been reported in the literature in one individual with DCM (Cuenca 2016 PMID:26899768). This variant is present in 0.003% (1/31406) of total alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/14-23876384-G-A). This variant is present in ClinVar (Variation ID:429310). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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