ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.989T>C (p.Leu330Ser)

dbSNP: rs1876747862
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001971305 SCV002264453 uncertain significance COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2021-05-27 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with COG6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with serine at codon 330 of the COG6 protein (p.Leu330Ser). The leucine residue is moderately conserved and there is a large physicochemical difference between leucine and serine.

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