ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.663-5C>A

dbSNP: rs1591503207
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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 RCV001025480 SCV001187677 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-09 criteria provided, single submitter clinical testing The c.663-5C>A intronic variant results from a C to A substitution 5 nucleotides upstream from coding exon 6 in the ATM gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested, however, this transcript is also seen in non-carrier controls; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001401699 SCV001603529 likely benign Ataxia-telangiectasia syndrome 2019-10-28 criteria provided, single submitter clinical testing

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