ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.236C>G (p.Pro79Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002599788 SCV003501444 uncertain significance not provided 2022-06-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 104 of the GORAB protein (p.Pro104Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV003161945 SCV003875798 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.311C>G (p.P104R) alteration is located in exon 2 (coding exon 2) of the GORAB gene. This alteration results from a C to G substitution at nucleotide position 311, causing the proline (P) at amino acid position 104 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003349045 SCV004048834 uncertain significance Geroderma osteodysplastica 2023-04-11 criteria provided, single submitter clinical testing

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