ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro)

dbSNP: rs2135553747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997936 SCV002253700 uncertain significance Ataxia-telangiectasia syndrome 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1008 of the ATM protein (p.Ser1008Pro). 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: 1464355). 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003237362 SCV003936015 uncertain significance Familial cancer of breast 2023-06-06 criteria provided, single submitter clinical testing A variant of uncertain significance was detected in this sample , This sequence change replaces serine with proline at codon 1008 of the ATM protein (p.Ser1008Pro). The serine residue is not conserved (phyloP100way = -1.01 ) . This variant is not present in population databases (gnomAD). This variant previously reported in ClinVar (ID:1464355) in individuals with Ataxia-telangiectasia syndrome. Benign computational based on PolyPhen, BayesDel_addAF, DANN, EIGEN, , MVP, , PrimateAI and SIFT . These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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