ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1223A>G (p.Asp408Gly) (rs587781582)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129620 SCV000184413 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-05 criteria provided, single submitter clinical testing Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family
Invitae RCV000459229 SCV000547014 uncertain significance Ataxia-telangiectasia syndrome 2016-11-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 408 of the ATM protein (p.Asp408Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 141215). 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"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000129620 SCV001344537 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-25 criteria provided, single submitter clinical testing

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