ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.551G>C (p.Cys184Ser)

dbSNP: rs2133982018
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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 RCV001918427 SCV002179961 uncertain significance Costello syndrome 2021-07-26 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 184 of the HRAS protein (p.Cys184Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. 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. 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 not expected to disrupt HRAS protein function. Experimental studies have shown that this missense change affects HRAS protein function (PMID: 15491620, 23412389, 23548900, 27468687, 28179458). 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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