ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.245T>C (p.Phe82Ser)

dbSNP: rs1851274209
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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 RCV001306208 SCV001495569 uncertain significance Costello syndrome 2020-07-29 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 82 of the HRAS protein (p.Phe82Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. 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. 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. 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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