ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8410A>C (p.Lys2804Gln)

dbSNP: rs878853549
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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 RCV000227143 SCV000283081 uncertain significance Ataxia-telangiectasia syndrome 2016-02-07 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 2804 of the ATM protein (p.Lys2804Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. In summary, this is a novel missense change with uncertain impact on protein function. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ATM-related disease.

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