ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8339T>C (p.Leu2780Pro)

dbSNP: rs2087825562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053549 SCV001217817 uncertain significance Ataxia-telangiectasia syndrome 2023-05-24 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of ATM-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 2780 of the ATM protein (p.Leu2780Pro). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 849553).

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