ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1510T>A (p.Cys504Ser)

dbSNP: rs2145434432
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001912099 SCV002141332 uncertain significance not provided 2021-08-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NOTCH3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with serine at codon 504 of the NOTCH3 protein (p.Cys504Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. 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.

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