Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000792249 | SCV000931530 | uncertain significance | 3-methylglutaconic aciduria, type VIIB | 2022-09-27 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 639454). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. This variant is present in population databases (rs549191970, gnomAD 0.006%). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 116 of the CLPB protein (p.Cys116Ser). |
Ambry Genetics | RCV004609521 | SCV005110127 | uncertain significance | Inborn genetic diseases | 2024-05-02 | criteria provided, single submitter | clinical testing | The c.347G>C (p.C116S) alteration is located in exon 1 (coding exon 1) of the CLPB gene. This alteration results from a G to C substitution at nucleotide position 347, causing the cysteine (C) at amino acid position 116 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV004760789 | SCV005373433 | uncertain significance | not provided | 2023-05-30 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |