ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6233C>T (p.Ser2078Phe) (rs786204173)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168203 SCV000218868 uncertain significance Ataxia-telangiectasia syndrome 2014-11-18 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 2078 of the ATM protein (p.Ser2078Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This sequence change has not been published in the literature and is not present in population databases. 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 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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