ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.259G>T (p.Val87Leu)

dbSNP: rs1488968785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001932865 SCV002175448 uncertain significance Aortic aneurysm, familial thoracic 4 2021-07-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 87 of the MYH11 protein (p.Val87Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine.
Ambry Genetics RCV004822954 SCV005453483 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-12-09 criteria provided, single submitter clinical testing The p.V87L variant (also known as c.259G>T), located in coding exon 1 of the MYH11 gene, results from a G to T substitution at nucleotide position 259. The valine at codon 87 is replaced by leucine, an amino acid with highly similar properties. This variant has been reported in a cardiovascular disease cohort that underwent whole exome sequencing (Seidelmann SB et al. Circ Cardiovasc Genet, 2017 Feb;10:). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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