ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7408T>G (p.Tyr2470Asp) (rs876659365)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220077 SCV000275741 likely pathogenic Hereditary cancer-predisposing syndrome 2015-05-14 criteria provided, single submitter clinical testing
Counsyl RCV000528764 SCV000788870 likely pathogenic Ataxia-telangiectasia syndrome 2016-12-21 criteria provided, single submitter clinical testing
Invitae RCV000528764 SCV000622744 pathogenic Ataxia-telangiectasia syndrome 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 2470 of the ATM protein (p.Tyr2470Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with ataxia-telangiectasia (PMID: 19691550, 21665257, 9887333). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 231789). 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. For these reasons, this variant has been classified as Pathogenic.

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