Total submissions: 1
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%). |