ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp) (rs777170587)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621065 SCV000739181 uncertain significance Cardiovascular phenotype 2017-04-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000765254 SCV000896504 uncertain significance Aortic aneurysm, familial thoracic 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765254 SCV000959295 uncertain significance Aortic aneurysm, familial thoracic 4 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1590 of the MYH11 protein (p.Arg1590Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs777170587, ExAC 0.009%). This variant has not been reported in the literature in individuals with MYH11-related disease. ClinVar contains an entry for this variant (Variation ID: 519925). 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"). 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.

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