ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529718 SCV000622234 uncertain significance Ataxia-telangiectasia syndrome 2020-01-07 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%). This variant has not been reported in the literature in individuals with ATM-related conditions. 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 and their clinical significance is uncertain. 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.
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
Ambry Genetics RCV000579972 SCV001170034 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-04 criteria provided, single submitter clinical testing Insufficient evidence

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