ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1106C>T (p.Ser369Phe) (rs762557654)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579972 SCV000681953 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-11 criteria provided, single submitter clinical testing
Counsyl RCV000529718 SCV000800023 uncertain significance Ataxia-telangiectasia syndrome 2018-05-21 criteria provided, single submitter clinical testing
Invitae RCV000529718 SCV000622234 uncertain significance Ataxia-telangiectasia syndrome 2017-10-05 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 369 of the ATM protein (p.Ser369Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs762557654, ExAC 0.002%) but has not been reported in the literature in individuals with an ATM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect 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.

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