ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.238T>A (p.Cys80Ser)

dbSNP: rs1370566417
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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 RCV000704627 SCV000833583 uncertain significance Costello syndrome 2025-01-16 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 80 of the HRAS protein (p.Cys80Ser). This variant is not present in population databases (gnomAD 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: 580944). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) indicates that this missense variant is not expected to disrupt HRAS function with a negative predictive value of 95%. 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.
Revvity Omics, Revvity RCV000704627 SCV003811238 uncertain significance Costello syndrome 2021-04-21 criteria provided, single submitter clinical testing

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