ClinVar Miner

Submissions for variant NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala)

gnomAD frequency: 0.00006  dbSNP: rs777474053
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499875 SCV000597083 uncertain significance not specified 2015-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765394 SCV000896668 uncertain significance Amish lethal microcephaly; Progressive demyelinating neuropathy with bilateral striatal necrosis 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001591143 SCV001826935 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001591143 SCV003499609 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 25 of the SLC25A19 protein (p.Ser25Ala). This variant is present in population databases (rs777474053, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC25A19-related conditions. ClinVar contains an entry for this variant (Variation ID: 436748). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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.