ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.374T>C (p.Val125Ala)

dbSNP: rs981155119
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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 RCV001880001 SCV002158041 uncertain significance Costello syndrome 2021-09-28 criteria provided, single submitter clinical testing 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. This sequence change replaces valine with alanine at codon 125 of the HRAS protein (p.Val125Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HRAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 981547). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HRAS protein function.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261052 SCV001438454 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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