ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1409C>G (p.Ala470Gly)

gnomAD frequency: 0.00006  dbSNP: rs199894378
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002232791 SCV000762157 uncertain significance Capillary malformation-arteriovenous malformation syndrome 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 470 of the RASA1 protein (p.Ala470Gly). This variant is present in population databases (rs199894378, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RASA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 533453). 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.

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