ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3224C>T (p.Thr1075Ile)

dbSNP: rs756568555
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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 RCV001205759 SCV001377032 uncertain significance Ataxia-telangiectasia syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1075 of the ATM protein (p.Thr1075Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs756568555, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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