ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)

dbSNP: rs1445835026
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817769 SCV000958352 uncertain significance Costello syndrome 2018-08-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 178 of the HRAS protein (p.Gly178Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with HRAS-related disease. This variant is not present in population databases (ExAC no frequency).

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