ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser)

gnomAD frequency: 0.00003  dbSNP: rs778761751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947317 SCV002136792 uncertain significance 3-methylglutaconic aciduria, type VIIB 2021-12-03 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with CLPB-related conditions. This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 594 of the CLPB protein (p.Arg594Ser). This variant is present in population databases (rs778761751, gnomAD 0.02%).
Ambry Genetics RCV002551008 SCV003645369 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.1782G>T (p.R594S) alteration is located in exon 16 (coding exon 16) of the CLPB gene. This alteration results from a G to T substitution at nucleotide position 1782, causing the arginine (R) at amino acid position 594 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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