ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)

dbSNP: rs369227883
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002918208 SCV003251647 likely benign 3-methylglutaconic aciduria, type VIIB 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002918209 SCV003675400 uncertain significance Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing The c.1885C>A (p.R629S) alteration is located in exon 17 (coding exon 17) of the CLPB gene. This alteration results from a C to A substitution at nucleotide position 1885, causing the arginine (R) at amino acid position 629 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University Hospital of Duesseldorf RCV002918208 SCV004177253 uncertain significance 3-methylglutaconic aciduria, type VIIB criteria provided, single submitter not provided
GeneDx RCV004725413 SCV005331773 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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