ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4063G>A (p.Ala1355Thr)

dbSNP: rs755058300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773628 SCV000907322 uncertain significance Cardiomyopathy 2023-03-02 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 1355 of the MYH7 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH7-related disorders in the literature. This variant has been identified in 1/251408 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002325471 SCV002632497 uncertain significance Cardiovascular phenotype 2020-09-02 criteria provided, single submitter clinical testing The p.A1355T variant (also known as c.4063G>A), located in coding exon 28 of the MYH7 gene, results from a G to A substitution at nucleotide position 4063. The alanine at codon 1355 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003130032 SCV003817744 uncertain significance not provided 2020-07-17 criteria provided, single submitter clinical testing

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