ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys)

gnomAD frequency: 0.00001  dbSNP: rs764794087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001900650 SCV002139477 uncertain significance Aortic aneurysm, familial thoracic 4 2021-07-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1767 of the MYH11 protein (p.Arg1767Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs764794087, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002503450 SCV002787131 uncertain significance Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001900650 SCV003836468 uncertain significance Aortic aneurysm, familial thoracic 4 2021-02-25 criteria provided, single submitter clinical testing

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