ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3857A>T (p.Asn1286Ile)

dbSNP: rs772586397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219647 SCV000272022 uncertain significance not specified 2015-03-04 criteria provided, single submitter clinical testing The p.Asn1286Ile variant in MYH6 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/8654 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that this variant ma y impact the protein, though this information is not predictive enough to determ ine pathogenicity. In summary, the clinical significance of the p.Asn1286Ile var iant is uncertain.
Ambry Genetics RCV002354608 SCV002622823 uncertain significance Cardiovascular phenotype 2020-07-31 criteria provided, single submitter clinical testing The p.N1286I variant (also known as c.3857A>T), located in coding exon 25 of the MYH6 gene, results from an A to T substitution at nucleotide position 3857. The asparagine at codon 1286 is replaced by isoleucine, an amino acid with dissimilar 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.

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