ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.617A>G (p.Tyr206Cys)

gnomAD frequency: 0.00004  dbSNP: rs376201207
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
Eurofins Ntd Llc (ga) RCV000728434 SCV000856012 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862146 SCV002309068 uncertain significance Muscle AMP deaminase deficiency 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 239 of the AMPD1 protein (p.Tyr239Cys). This variant is present in population databases (rs376201207, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 593406). 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 disruptive. 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 RCV004026945 SCV004894966 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.716A>G (p.Y239C) alteration is located in exon 6 (coding exon 6) of the AMPD1 gene. This alteration results from a A to G substitution at nucleotide position 716, causing the tyrosine (Y) at amino acid position 239 to be replaced by a cysteine (C). 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.