ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1076A>T (p.Gln359Leu)

gnomAD frequency: 0.00001  dbSNP: rs746551717
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234498 SCV001407148 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2023-09-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 359 of the RASA1 protein (p.Gln359Leu). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 960891). This variant has not been reported in the literature in individuals affected with RASA1-related conditions. This variant is present in population databases (rs746551717, gnomAD 0.01%).

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