ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.743T>C (p.Ile248Thr)

dbSNP: rs727504280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000154286 SCV002187198 uncertain significance Hypertrophic cardiomyopathy 2021-10-04 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. This variant is found within a region of MYH7 between codons 181 and 937 that contains the majority of the myosin head domain. Missense variants in this region have been shown to be significantly overrepresented in individuals with hypertrophic cardiomyopathy (PMID: 27532257). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 177687). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 27532257). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 248 of the MYH7 protein (p.Ile248Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154286 SCV000203945 likely pathogenic Hypertrophic cardiomyopathy 2015-04-10 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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