ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)

gnomAD frequency: 0.00001  dbSNP: rs766759416
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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 RCV001231227 SCV001403740 uncertain significance 3-methylglutaconic aciduria, type VIIB 2019-11-15 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with CLPB-related conditions. This variant is present in population databases (rs766759416, ExAC 0.01%). This sequence change replaces lysine with glutamic acid at codon 283 of the CLPB protein (p.Lys283Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.
Ambry Genetics RCV005318674 SCV005984465 uncertain significance Inborn genetic diseases 2025-02-28 criteria provided, single submitter clinical testing The c.847A>G (p.K283E) alteration is located in exon 6 (coding exon 6) of the CLPB gene. This alteration results from a A to G substitution at nucleotide position 847, causing the lysine (K) at amino acid position 283 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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