ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3181C>A (p.Leu1061Met)

dbSNP: rs727503237
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151218 SCV000199069 uncertain significance not specified 2013-04-03 criteria provided, single submitter clinical testing The Leu1061Met variant in MYH6 has not been reported in the literature nor previ ously identified by our laboratory. This variant has also not been identified in large European American and African American populations by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS), though it may be present in other populations. Computational analyses (biochemical amino acid properties, co nservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully ass ess the clinical significance of this variant.

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