ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5089A>G (p.Thr1697Ala)

gnomAD frequency: 0.00001  dbSNP: rs727503233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151212 SCV000199050 uncertain significance not specified 2014-01-22 criteria provided, single submitter clinical testing The Thr1697Ala variant in MYH6 has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001850059 SCV002266999 uncertain significance Hypertrophic cardiomyopathy 14 2022-07-19 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 164214). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs727503233, gnomAD 0.009%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1697 of the MYH6 protein (p.Thr1697Ala).
Ambry Genetics RCV004019815 SCV003600725 uncertain significance Cardiovascular phenotype 2022-01-19 criteria provided, single submitter clinical testing The c.5089A>G (p.T1697A) alteration is located in exon 34 (coding exon 32) of the MYH6 gene. This alteration results from a A to G substitution at nucleotide position 5089, causing the threonine (T) at amino acid position 1697 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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