ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.658G>A (p.Ala220Thr)

gnomAD frequency: 0.00001  dbSNP: rs183596463
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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 RCV001947873 SCV002194662 uncertain significance not provided 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 245 of the GORAB protein (p.Ala245Thr). This variant is present in population databases (rs183596463, gnomAD 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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 RCV002557730 SCV003528525 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.733G>A (p.A245T) alteration is located in exon 4 (coding exon 4) of the GORAB gene. This alteration results from a G to A substitution at nucleotide position 733, causing the alanine (A) at amino acid position 245 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003348626 SCV004048850 uncertain significance Geroderma osteodysplastica 2023-04-11 criteria provided, single submitter clinical testing

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