ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.332T>C (p.Met111Thr)

dbSNP: rs1564789063
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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 RCV000689351 SCV000816999 uncertain significance Costello syndrome 2023-08-30 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 568861). This variant has not been reported in the literature in individuals affected with HRAS-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 111 of the HRAS protein (p.Met111Thr).

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