ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.452C>T (p.Ser151Phe) (rs1565357249)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772585 SCV000905765 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV000795340 SCV000934796 uncertain significance Ataxia-telangiectasia syndrome 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 151 of the ATM protein (p.Ser151Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with breast and/or ovarian cancer (PMID: 19781682, 12810666). 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 disruptive, 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.

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