ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.388G>C (p.Ala130Pro)

dbSNP: rs1564788957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707594 SCV000836695 uncertain significance Costello syndrome 2021-12-23 criteria provided, single submitter clinical testing 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 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. ClinVar contains an entry for this variant (Variation ID: 583295). This variant has not been reported in the literature in individuals affected with HRAS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 130 of the HRAS protein (p.Ala130Pro).
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam RCV000707594 SCV003934963 pathogenic Costello syndrome 2022-06-22 criteria provided, single submitter clinical testing

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