ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) (rs200032855)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000167544 SCV000328960 pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2016-09-14 no assertion criteria provided literature only
Invitae RCV000167544 SCV000775147 uncertain significance 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2018-06-06 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 268 of the CLPB protein (p.Thr268Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygous state in several Greenlandic individuals affected with type IV 3-methylglutaconic aciduria as well as in the heterozygous state in Greenlandic controls (PMID: 25597511). ClinVar contains an entry for this variant (Variation ID: 187787). Experimental studies have shown that this missense change, p.Thr268Met, results in absent CLPB protein expression (PMID: 25597511). 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.
OMIM RCV000167544 SCV000218402 pathogenic 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2015-02-05 no assertion criteria provided literature only

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