ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2614C>T (p.Arg872Cys) (rs201193346)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462013 SCV000557914 likely benign Familial hypertrophic cardiomyopathy 14 2017-10-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037461 SCV000061119 uncertain significance not specified 2014-12-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg872Cys var iant in MYH6 has been identified by our laboratory in 1 Caucasian adult with DCM who also carried a likely pathogenic variant in another gene. This variant has been identified in 0.03% (19/67688) of European chromosomes and 0.1% (18/16628) South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs201193346). Computational prediction tools suggest t hat this variant may impact the protein, though this information is not predicti ve enough to determine pathogenicity. In summary, while the clinical significanc e of the p.Arg872Cys variant is uncertain, its frequency suggests that it is mor e likely to be benign.

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