ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.2659G>A (p.Val887Met)

gnomAD frequency: 0.00003  dbSNP: rs762583223
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 RCV001977186 SCV002262939 uncertain significance not provided 2021-04-11 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP2B2 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. This variant has not been reported in the literature in individuals with ATP2B2-related conditions. This sequence change replaces valine with methionine at codon 842 of the ATP2B2 protein (p.Val842Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs762583223, ExAC 0.003%).
CeGaT Center for Human Genetics Tuebingen RCV001977186 SCV004011440 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing ATP2B2: PP2, PP3
Ambry Genetics RCV004867769 SCV005516564 uncertain significance not specified 2024-07-02 criteria provided, single submitter clinical testing The c.2524G>A (p.V842M) alteration is located in exon 15 (coding exon 14) of the ATP2B2 gene. This alteration results from a G to A substitution at nucleotide position 2524, causing the valine (V) at amino acid position 842 to be replaced by a methionine (M). 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.