ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4256C>A (p.Thr1419Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002329898 SCV002627029 uncertain significance Cardiovascular phenotype 2021-12-16 criteria provided, single submitter clinical testing The p.T1419N variant (also known as c.4256C>A), located in coding exon 28 of the MYH6 gene, results from a C to A substitution at nucleotide position 4256. The threonine at codon 1419 is replaced by asparagine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094609 SCV003467290 uncertain significance Hypertrophic cardiomyopathy 14 2022-05-22 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1419 of the MYH6 protein (p.Thr1419Asn).

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