ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1610C>A (p.Pro537His) (rs587782463)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131553 SCV000186554 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000199222 SCV000254061 uncertain significance Ataxia-telangiectasia syndrome 2015-01-06 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 537 of the ATM protein (p.Pro537His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine. This variant has not been published in the literature and is not present in population databases. ClinVar contains an entry for this variant (RCV000131553). 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 is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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