ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)

gnomAD frequency: 0.00001  dbSNP: rs587777167
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000087150 SCV000746314 likely pathogenic Martsolf syndrome 2017-12-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000850507 SCV000992710 pathogenic Martsolf syndrome; Warburg micro syndrome 2 2018-10-12 criteria provided, single submitter clinical testing
Invitae RCV000850507 SCV002265556 pathogenic Martsolf syndrome; Warburg micro syndrome 2 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 426 of the RAB3GAP2 protein (p.Arg426Cys). This variant is present in population databases (rs587777167, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of Martsolf syndrome (PMID: 23420520; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 100787). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RAB3GAP2 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects RAB3GAP2 function (PMID: 24891604). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001807041 SCV000120012 pathogenic Martsolf syndrome 1 2013-05-01 no assertion criteria provided literature only
GeneReviews RCV000087150 SCV000778360 not provided Martsolf syndrome no assertion provided literature only

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