ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) (rs397517144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797018 SCV000936556 uncertain significance Costello syndrome 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 174 of the HRAS protein (p.Pro174Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HRAS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001261054 SCV001438456 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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