ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)

dbSNP: rs121913233
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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 RCV001372584 SCV001569258 uncertain significance Costello syndrome 2020-03-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 61 of the HRAS protein (p.Gln61Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HRAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 376033). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Institute of Medical Sciences, Banaras Hindu University RCV001255684 SCV001432249 pathogenic Lip and oral cavity carcinoma 2019-04-30 no assertion criteria provided research
Yale Center for Mendelian Genomics, Yale University RCV001849368 SCV002106436 pathogenic KA-like vemurafenib-induced squamous lesions 2016-06-07 no assertion criteria provided literature only

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