ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)

gnomAD frequency: 0.00002  dbSNP: rs876659425
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213694 SCV000275865 likely benign Hereditary cancer-predisposing syndrome 2024-08-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000213694 SCV000913989 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000821518 SCV000962277 uncertain significance Ataxia-telangiectasia syndrome 2025-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 568 of the ATM protein (p.Arg568Gly). 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: 231883). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ATM protein function with a negative predictive value of 95%. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (internal data). 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.
PreventionGenetics, part of Exact Sciences RCV004547546 SCV004115797 uncertain significance ATM-related disorder 2022-12-09 criteria provided, single submitter clinical testing The ATM c.1702A>G variant is predicted to result in the amino acid substitution p.Arg568Gly. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. It is interpreted as uncertain significance (https://preview.ncbi.nlm.nih.gov/clinvar/variation/231883/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV003462480 SCV004207055 uncertain significance Familial cancer of breast 2024-03-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000821518 SCV002083757 uncertain significance Ataxia-telangiectasia syndrome 2021-02-25 no assertion criteria provided clinical testing

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