ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7037C>T (p.Ala2346Val)

dbSNP: rs2085819145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203737 SCV001374913 uncertain significance Ataxia-telangiectasia syndrome 2021-10-28 criteria provided, single submitter clinical testing 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. 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 ATM protein function. ClinVar contains an entry for this variant (Variation ID: 935196). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2346 of the ATM protein (p.Ala2346Val).
Mendelics RCV002249790 SCV002517877 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Department of Human Genetics, Hannover Medical School RCV004720296 SCV005326504 uncertain significance Familial cancer of breast 2024-09-23 criteria provided, single submitter clinical testing ClinGen ATM: (PM2_Supporting, PP3)
Natera, Inc. RCV001203737 SCV002080086 uncertain significance Ataxia-telangiectasia syndrome 2020-07-22 no assertion criteria provided clinical testing

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