ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) (rs755788420)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000377938 SCV000458943 uncertain significance Parkes Weber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280765 SCV000458944 uncertain significance Capillary malformation-arteriovenous malformation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000280765 SCV000552999 uncertain significance Capillary malformation-arteriovenous malformation 2016-06-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 83 of the RASA1 protein (p.Gly83Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RASA1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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