ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)

gnomAD frequency: 0.00051  dbSNP: rs144777839
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798683 SCV000938309 uncertain significance 3-methylglutaconic aciduria, type VIIB 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 683 of the CLPB protein (p.Ile683Thr). This variant is present in population databases (rs144777839, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. ClinVar contains an entry for this variant (Variation ID: 644706). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV002279535 SCV002567451 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing Reported in a patient with schizophrenia; however, additional clinical information was not included (Richards et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26740555, 28719003)
Ambry Genetics RCV002537097 SCV003682473 uncertain significance Inborn genetic diseases 2022-11-19 criteria provided, single submitter clinical testing The c.2048T>C (p.I683T) alteration is located in exon 17 (coding exon 17) of the CLPB gene. This alteration results from a T to C substitution at nucleotide position 2048, causing the isoleucine (I) at amino acid position 683 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV002279535 SCV004226206 uncertain significance not provided 2022-11-18 criteria provided, single submitter clinical testing BP4

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