ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.109G>A (p.Gly37Ser)

gnomAD frequency: 0.00010  dbSNP: rs200428113
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551373 SCV000638263 uncertain significance Brody myopathy 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 37 of the ATP2A1 protein (p.Gly37Ser). This variant is present in population databases (rs200428113, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ATP2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 464069). 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.
GeneDx RCV002298652 SCV002587862 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000551373 SCV003834365 uncertain significance Brody myopathy 2020-11-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002298652 SCV004227549 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing PP3, PM2
Ambry Genetics RCV004023975 SCV004913377 uncertain significance Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing The c.109G>A (p.G37S) alteration is located in exon 1 (coding exon 1) of the ATP2A1 gene. This alteration results from a G to A substitution at nucleotide position 109, causing the glycine (G) at amino acid position 37 to be replaced by a serine (S). 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.