ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7235A>C (p.Asn2412Thr) (rs786203311)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580726 SCV000682398 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000483115 SCV000566742 uncertain significance not provided 2018-02-19 criteria provided, single submitter clinical testing This variant is denoted ATM c.7235A>C at the cDNA level, p.Asn2412Thr (N2412T) at the protein level, and results in the change of an Asparagine to a Threonine (AAC>ACC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Asn2412Thr was not observed in large population cohorts (Lek 2016). ATM Asn2412Thr is located in the FAT domain (Stracker 2013). In-silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available information, it is unclear whether ATM Asn2412Thr is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000472533 SCV000546950 uncertain significance Ataxia-telangiectasia syndrome 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 2412 of the ATM protein (p.Asn2412Thr). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 407621). 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, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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