ClinVar Miner

Submissions for variant NM_006348.5(COG5):c.2T>G (p.Met1Arg)

dbSNP: rs375702393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001200898 SCV002797033 likely pathogenic COG5-congenital disorder of glycosylation 2022-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001200898 SCV003440708 pathogenic COG5-congenital disorder of glycosylation 2022-01-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 32 of the COG5 protein (p.Met32Arg). This variant is present in population databases (rs375702393, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of COG5-congenital disorder of glycosylation (PMID: 23228021, 33277529). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 932926). 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"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001200898 SCV001371818 pathogenic COG5-congenital disorder of glycosylation 2020-07-07 no assertion criteria provided literature only

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