ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2591C>T (p.Thr864Met) (rs200153625)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172564 SCV000050991 likely benign not provided 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000208173 SCV000264069 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-03-26 criteria provided, single submitter clinical testing
Invitae RCV000821750 SCV000962519 uncertain significance Familial hypertrophic cardiomyopathy 14 2018-07-12 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 864 of the MYH6 protein (p.Thr864Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200153625, ExAC 0.003%). This variant has not been reported in the literature in individuals with MYH6-related disease. ClinVar contains an entry for this variant (Variation ID: 192122). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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