ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1059A>T (p.Thr353=)

dbSNP: rs1555338461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603642 SCV000728257 likely benign not specified 2018-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001186251 SCV001352624 likely benign Cardiomyopathy 2019-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413755 SCV002716133 uncertain significance Cardiovascular phenotype 2021-01-11 criteria provided, single submitter clinical testing The c.1059A>T variant (also known as p.T353T), located in coding exon 10 of the MYH7 gene, results from an A to T substitution at nucleotide position 1059. This nucleotide substitution does not change the at codon 353. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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