ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4100A>G (p.Asp1367Gly)

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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 RCV003605128 SCV004505284 uncertain significance Ataxia-telangiectasia syndrome 2023-02-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATM-related conditions. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1367 of the ATM protein (p.Asp1367Gly).

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