ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.259A>T (p.Ile87Phe)

gnomAD frequency: 0.00001  dbSNP: rs1021271475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205374 SCV001376626 uncertain significance Hypertrophic cardiomyopathy 14 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 87 of the MYH6 protein (p.Ile87Phe). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYH6-related conditions. 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"). 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.
GeneDx RCV001796385 SCV002032380 uncertain significance not provided 2021-06-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 936555; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 26582918)

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