ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5838G>T (p.Gln1946His)

dbSNP: rs1060501612
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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 RCV000463170 SCV000546880 uncertain significance Ataxia-telangiectasia syndrome 2018-06-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1946 of the ATM protein (p.Gln1946His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. 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. 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: "Benign"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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