ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3205C>G (p.Pro1069Ala)

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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 RCV002685940 SCV002991777 uncertain significance Ataxia-telangiectasia syndrome 2023-03-18 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. 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. ClinVar contains an entry for this variant (Variation ID: 1951153). 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 proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1069 of the ATM protein (p.Pro1069Ala).
Baylor Genetics RCV004571209 SCV005053032 uncertain significance Familial cancer of breast 2023-11-13 criteria provided, single submitter clinical testing

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