ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3838G>A (p.Ala1280Thr)

gnomAD frequency: 0.00001  dbSNP: rs762102758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525254 SCV000648254 uncertain significance Hypertrophic cardiomyopathy 14 2022-11-22 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYH6 protein function. ClinVar contains an entry for this variant (Variation ID: 470532). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs762102758, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1280 of the MYH6 protein (p.Ala1280Thr).
Ambry Genetics RCV002358551 SCV002623281 uncertain significance Cardiovascular phenotype 2022-04-19 criteria provided, single submitter clinical testing The p.A1280T variant (also known as c.3838G>A), located in coding exon 25 of the MYH6 gene, results from a G to A substitution at nucleotide position 3838. The alanine at codon 1280 is replaced by threonine, 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 RCV002476177 SCV002791972 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-09-30 criteria provided, single submitter clinical testing

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