ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8608G>A (p.Asp2870Asn) (rs55798854)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463528 SCV000547026 uncertain significance Ataxia-telangiectasia syndrome 2018-07-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 2870 of the ATM protein (p.Asp2870Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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: "Probably Damaging"; 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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