ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2576G>C (p.Gly859Ala) (rs779528748)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647042 SCV000768829 uncertain significance Familial hypertrophic cardiomyopathy 14 2017-10-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 859 of the MYH6 protein (p.Gly859Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs779528748, ExAC 0.001%). This variant has not been reported in the literature in individuals with MYH6-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics,Fulgent Genetics RCV000765151 SCV000896380 uncertain significance Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing

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