ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.341T>A (p.Ile114Asn)

dbSNP: rs730880833
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703364 SCV000832261 uncertain significance Hypertrophic cardiomyopathy 2018-06-14 criteria provided, single submitter clinical testing 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. 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). This variant has not been reported in the literature in individuals with MYH7-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 114 of the MYH7 protein (p.Ile114Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine.

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