ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)

gnomAD frequency: 0.00002  dbSNP: rs549191970
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.
GeneDx 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

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