ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.805G>A (p.Glu269Lys)

gnomAD frequency: 0.00001  dbSNP: rs765224001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002276353 SCV002562954 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing GORAB: PM2, BP1
Labcorp Genetics (formerly Invitae), Labcorp RCV002276353 SCV003252997 uncertain significance not provided 2021-12-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 294 of the GORAB protein (p.Glu294Lys). This variant is present in population databases (rs765224001, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with GORAB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Genome-Nilou Lab RCV003348835 SCV004048855 uncertain significance Geroderma osteodysplastica 2023-04-11 criteria provided, single submitter clinical testing

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