ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1247A>G (p.Asn416Ser)

gnomAD frequency: 0.00001  dbSNP: rs756614480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040252 SCV001203814 uncertain significance COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 416 of the COG6 protein (p.Asn416Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs756614480, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with COG6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002553067 SCV003691541 uncertain significance Inborn genetic diseases 2022-06-27 criteria provided, single submitter clinical testing The c.1247A>G (p.N416S) alteration is located in exon 13 (coding exon 13) of the COG6 gene. This alteration results from a A to G substitution at nucleotide position 1247, causing the asparagine (N) at amino acid position 416 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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