ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)

gnomAD frequency: 0.00048  dbSNP: rs145464176
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298964 SCV001488035 uncertain significance Pontocerebellar hypoplasia type 1B 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 150 of the EXOSC3 protein (p.Thr150Ala). This variant is present in population databases (rs145464176, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with EXOSC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002526). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Baylor Genetics RCV001298964 SCV001529027 uncertain significance Pontocerebellar hypoplasia type 1B 2018-01-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002541877 SCV003702933 uncertain significance Inborn genetic diseases 2022-03-15 criteria provided, single submitter clinical testing The c.448A>G (p.T150A) alteration is located in exon 2 (coding exon 2) of the EXOSC3 gene. This alteration results from a A to G substitution at nucleotide position 448, causing the threonine (T) at amino acid position 150 to be replaced by an alanine (A). The in silico prediction for the p.T150A alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.