ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.-28C>G

gnomAD frequency: 0.00003  dbSNP: rs553663341
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024006 SCV002307625 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 16 of the GORAB protein (p.His16Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs553663341, ExAC 0.003%). This variant has not been reported in the literature in individuals with GORAB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV003161275 SCV003867967 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.48C>G (p.H16Q) alteration is located in exon 1 (coding exon 1) of the GORAB gene. This alteration results from a C to G substitution at nucleotide position 48, causing the histidine (H) at amino acid position 16 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003348769 SCV004048823 uncertain significance Geroderma osteodysplastica 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002024006 SCV005187049 uncertain significance not provided criteria provided, single submitter not provided

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