ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.143C>A (p.Pro48His)

dbSNP: rs1580178676
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235090 SCV000957481 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 48 of the RASA1 protein (p.Pro48His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RASA1-related disease. This variant is not present in population databases (ExAC no frequency).

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