ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.648C>G (p.Asp216Glu)

gnomAD frequency: 0.00001  dbSNP: rs780332229
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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 RCV001311666 SCV001501941 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
Invitae RCV001311666 SCV002262828 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 241 of the GORAB protein (p.Asp241Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs780332229, ExAC 0.006%). This variant has not been reported in the literature in individuals with GORAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1013263). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV003346451 SCV004048846 uncertain significance Geroderma osteodysplastica 2023-04-11 criteria provided, single submitter clinical testing

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