ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn)

gnomAD frequency: 0.00001  dbSNP: rs771835302
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001351868 SCV001546372 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2023-08-04 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1047191). This variant has not been reported in the literature in individuals affected with RASA1-related conditions. This variant is present in population databases (rs771835302, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 858 of the RASA1 protein (p.Lys858Asn).

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