ClinVar Miner

Submissions for variant NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr)

gnomAD frequency: 0.00002  dbSNP: rs376426601
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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 RCV002020963 SCV002298240 uncertain significance COG7 congenital disorder of glycosylation 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 482 of the COG7 protein (p.Cys482Tyr). This variant is present in population databases (rs376426601, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with COG7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1515260). 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.
Fulgent Genetics, Fulgent Genetics RCV002020963 SCV002776138 uncertain significance COG7 congenital disorder of glycosylation 2022-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003348764 SCV004067887 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.1445G>A (p.C482Y) alteration is located in exon 11 (coding exon 11) of the COG7 gene. This alteration results from a G to A substitution at nucleotide position 1445, causing the cysteine (C) at amino acid position 482 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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