ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) (rs397515884)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157306 SCV000207038 likely pathogenic Primary familial hypertrophic cardiomyopathy 2014-05-22 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035367 SCV000059015 uncertain significance not specified 2011-12-08 criteria provided, single submitter clinical testing The Gly347Ser variant (MYBPC3) has not been reported in the literature but has b een identified in 1 infant with DCM out of >2,000 Caucasian probands tested by o ur laboratory. This low frequency is consistent with a disease causing role but is insufficient to definitively implicate this variant. Glycine (gly) at positi on 347 highly conserved in evolution, suggesting that a change would not be tole rated. However, computational tools (AlignGVGD, PolyPhen2, SIFT) provide confli cting information regarding the pathogenicity of this variant (their accuracy is unknown). In summary, additional information is needed to determine the clinic al significance of this variant.

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