ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002756435 SCV003026196 uncertain significance COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2022-07-16 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with COG6-related conditions. This variant is present in population databases (rs781499017, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 476 of the COG6 protein (p.Cys476Arg). 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 RCV002756436 SCV003663227 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.1426T>C (p.C476R) alteration is located in exon 15 (coding exon 15) of the COG6 gene. This alteration results from a T to C substitution at nucleotide position 1426, causing the cysteine (C) at amino acid position 476 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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