ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.529_530del (p.Ser177fs)

dbSNP: rs2539783963
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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 RCV003087592 SCV003473875 uncertain significance Costello syndrome 2023-05-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HRAS-related conditions. This sequence change results in a frameshift in the HRAS gene (p.Ser177Trpfs*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 13 amino acid(s) of the HRAS protein and extend the protein by an uncertain number of additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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