ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)

gnomAD frequency: 0.00016  dbSNP: rs183607306
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801008 SCV000940756 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2022-07-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 646672). This variant has not been reported in the literature in individuals affected with ABCD4-related conditions. This variant is present in population databases (rs183607306, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 189 of the ABCD4 protein (p.Ser189Gly). 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. 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.
Ambry Genetics RCV003353030 SCV004052223 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.565A>G (p.S189G) alteration is located in exon 6 (coding exon 6) of the ABCD4 gene. This alteration results from a A to G substitution at nucleotide position 565, causing the serine (S) at amino acid position 189 to be replaced by a glycine (G). 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.