Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |