ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3860-15T>G (rs200883903)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000037484 SCV000533154 likely benign not specified 2016-11-01 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037484 SCV000061142 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.3860-15T>G va riant in MYH6 has been identified by our laboratory in 1 Pacific Islander adult with HCM. It was also identified in 0.2% (16/8654) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 200883903). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predicti ve enough to determine pathogenicity. In summary, while the clinical significanc e of the c.3860-15T>G variant is uncertain, its frequency suggests that it is mo re likely to be benign.

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