ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.408G>C (p.Lys136Asn)

dbSNP: rs964155812
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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 RCV001368856 SCV001565270 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 161 of the GORAB protein (p.Lys161Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). 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 RCV002548610 SCV003619299 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.483G>C (p.K161N) alteration is located in exon 2 (coding exon 2) of the GORAB gene. This alteration results from a G to C substitution at nucleotide position 483, causing the lysine (K) at amino acid position 161 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003346530 SCV004048839 uncertain significance Geroderma osteodysplastica 2023-04-11 criteria provided, single submitter clinical testing

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