ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.203C>T (p.Thr68Met)

gnomAD frequency: 0.00009  dbSNP: rs751285148
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065382 SCV001230338 uncertain significance Hypertrophic cardiomyopathy 14 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 68 of the MYH6 protein (p.Thr68Met). This variant is present in population databases (rs751285148, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 859305). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002418539 SCV002718777 uncertain significance Cardiovascular phenotype 2024-07-07 criteria provided, single submitter clinical testing The p.T68M variant (also known as c.203C>T), located in coding exon 2 of the MYH6 gene, results from a C to T substitution at nucleotide position 203. The threonine at codon 68 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002479384 SCV002789770 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-08-13 criteria provided, single submitter clinical testing
GeneDx RCV003153926 SCV003842657 uncertain significance not provided 2022-09-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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