ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.518C>T (p.Pro173Leu)

dbSNP: rs1171786943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526328 SCV000635093 uncertain significance Costello syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 173 of the HRAS protein (p.Pro173Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a HRAS-related disease. 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. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Diagnostic Laboratory, Strasbourg University Hospital RCV001260727 SCV001437819 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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