ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.730G>A (p.Val244Ile)

gnomAD frequency: 0.00011  dbSNP: rs147560202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696749 SCV000825326 uncertain significance COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2022-10-28 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COG6 protein function. ClinVar contains an entry for this variant (Variation ID: 574735). This variant has not been reported in the literature in individuals affected with COG6-related conditions. This variant is present in population databases (rs147560202, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 244 of the COG6 protein (p.Val244Ile).
GeneDx RCV001592889 SCV001814194 uncertain significance not provided 2020-10-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24121792)

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