ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)

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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 RCV000797018 SCV000936556 uncertain significance Costello syndrome 2022-10-03 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 experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt HRAS protein function. ClinVar contains an entry for this variant (Variation ID: 643338). 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 proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 174 of the HRAS protein (p.Pro174Ala).
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261054 SCV001438456 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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