ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala)

gnomAD frequency: 0.00001  dbSNP: rs786202473
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
Ambry Genetics RCV000165298 SCV000216017 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-03 criteria provided, single submitter clinical testing The c.4759C>G (p.P1587A) alteration is located in exon 31 (coding exon 30) of the ATM gene. This alteration results from a C to G substitution at nucleotide position 4759, causing the proline (P) at amino acid position 1587 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000532004 SCV000622527 uncertain significance Ataxia-telangiectasia syndrome 2023-12-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1587 of the ATM protein (p.Pro1587Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 185808). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
GeneDx RCV003162697 SCV003915109 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in an individual with breast cancer (Decker et al., 2017); This variant is associated with the following publications: (PMID: 28779002)
Baylor Genetics RCV004567265 SCV005056960 uncertain significance Familial cancer of breast 2024-02-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000532004 SCV002083083 uncertain significance Ataxia-telangiectasia syndrome 2020-12-04 no assertion criteria provided clinical testing

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.