ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2726C>T (p.Thr909Ile)

dbSNP: rs1555083259
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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 RCV000628163 SCV000749056 uncertain significance Ataxia-telangiectasia syndrome 2021-06-05 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with ATM-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 909 of the ATM protein (p.Thr909Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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