ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) (rs545875689)

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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 RCV000208188 SCV000264095 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-01-27 criteria provided, single submitter clinical testing
Invitae RCV000628959 SCV000749868 uncertain significance Hypertrophic cardiomyopathy 2017-12-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1634 of the MYH7 protein (p.Arg1634His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYH7-related disease. ClinVar contains an entry for this variant (Variation ID: 222730). A computational algorithm designed to assess the pathogenicity of variants in MYH7 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). 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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