ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) (rs150938052)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169204 SCV000220457 likely pathogenic Glutaric aciduria, type 1 2014-06-29 criteria provided, single submitter literature only
Invitae RCV000169204 SCV001585091 pathogenic Glutaric aciduria, type 1 2020-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 383 of the GCDH protein (p.Arg383Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs150938052, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another GCDH variant in several individuals affected with glutaric aciduria type I (PMID: 30298489, 15505393, 28438223). ClinVar contains an entry for this variant (Variation ID: 188852). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Arg383 amino acid residue in GCDH. Other variant(s) that disrupt this residue have been observed in individuals with GCDH-related conditions (PMID: 30203563, 15505393), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Department of Biotechnology and Microbiology,Karnatak University Dharwad RCV000169204 SCV000891777 uncertain significance Glutaric aciduria, type 1 2019-01-03 no assertion criteria provided research

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