ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.794C>A (p.Thr265Asn)

gnomAD frequency: 0.00001  dbSNP: rs876661375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463441 SCV000546273 uncertain significance Hypertrophic cardiomyopathy 2020-10-16 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: "Benign"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of hypertrophic cardiomyopathy (PMID: 27247418, Invitae). ClinVar contains an entry for this variant (Variation ID: 235035). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 265 of the MYH7 protein (p.Thr265Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000223793 SCV000280359 uncertain significance not specified 2012-01-16 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MYH7 p.Thr265Asn (c.794C>A) The variant is novel. There is no variation at codon 265 listed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of December 22nd, 2014).

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