ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5723C>G (p.Thr1908Arg)

dbSNP: rs2135977089
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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 RCV001365352 SCV001561618 uncertain significance Ataxia-telangiectasia syndrome 2020-01-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 1908 of the ATM protein (p.Thr1908Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or 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 conditions.

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