ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3076T>C (p.Trp1026Arg)

dbSNP: rs2135555027
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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 RCV001371123 SCV001567679 uncertain significance Ataxia-telangiectasia syndrome 2020-03-16 criteria provided, single submitter clinical testing 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 C0"). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with arginine at codon 1026 of the ATM protein (p.Trp1026Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. 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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