ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys)

gnomAD frequency: 0.00001  dbSNP: rs372048612
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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 RCV001039872 SCV001203422 uncertain significance Costello syndrome 2024-01-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 141 of the HRAS protein (p.Tyr141Cys). This variant is present in population databases (rs372048612, gnomAD 0.006%). 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: 838341). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) 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.
Sema4, Sema4 RCV002258094 SCV002537981 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter curation

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