ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.2836G>A (p.Asp946Asn) (rs139440017)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514967 SCV000610456 uncertain significance not provided 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV001046057 SCV001209942 uncertain significance COG1 congenital disorder of glycosylation 2019-02-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 946 of the COG1 protein (p.Asp946Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs139440017, ExAC 0.03%). This variant has not been reported in the literature in individuals with COG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 445765). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
GeneDx RCV000514967 SCV001981922 uncertain significance not provided 2021-09-20 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

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