ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser)

dbSNP: rs2087823795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063472 SCV001228319 uncertain significance Ataxia-telangiectasia syndrome 2024-12-26 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 2777 of the ATM protein (p.Gly2777Ser). 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: 857733). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ATM 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.
Sema4, Sema4 RCV002259080 SCV002527252 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter curation
Baylor Genetics RCV003467819 SCV004210113 uncertain significance Familial cancer of breast 2023-07-29 criteria provided, single submitter clinical testing

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