ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3836A>G (p.Asn1279Ser)

gnomAD frequency: 0.00004  dbSNP: rs767533401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659913 SCV000781817 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360684 SCV002626004 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-12 criteria provided, single submitter clinical testing The p.N1279S variant (also known as c.3836A>G), located in coding exon 27 of the MYH11 gene, results from an A to G substitution at nucleotide position 3836. The asparagine at codon 1279 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
All of Us Research Program, National Institutes of Health RCV002360684 SCV004821704 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-15 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 1286 of the MYH11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH11-related disorders in the literature. This variant has been identified in 3/249928 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.

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