Total submissions: 4
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. |
Gene |
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, |
RCV002279535 | SCV004226206 | uncertain significance | not provided | 2022-11-18 | criteria provided, single submitter | clinical testing | BP4 |