ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5177+1G>A (rs1131691159)

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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 RCV000493729 SCV000581459 pathogenic Hereditary cancer-predisposing syndrome 2017-03-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Functionally-validated splicing mutation,Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Integrated Genetics/Laboratory Corporation of America RCV000587062 SCV000694298 pathogenic Ataxia-telangiectasia syndrome 2017-04-13 criteria provided, single submitter clinical testing Variant summary: The ATM c.5177+1G>A variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict loss of canonical splicing donor site. These predictions was confirmed by functional studies showing variant led to exon skipping (Soukupova_2008). This variant is absent in 125804 control chromosomes. It has been reported in AT patient as well as BrC patient. Taken together, this variant is classified as pathogenic.

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