ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5700G>C (p.Lys1900Asn)

dbSNP: rs397516778
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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 RCV000037536 SCV000061194 uncertain significance not specified 2012-05-31 criteria provided, single submitter clinical testing The Lys1900Asn variant in MYH6 has not been reported in the literature nor previ ously identified by our laboratory. Lysine (Lys) at position 1900 is highly cons erved in mammals and evolutionarily distant species, though computational analys es (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not pr ovide strong support for or against an impact to the protein. Additional informa tion is needed to fully assess the clinical significance of the Lys1900Asn varia nt.

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