ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2610C>T (p.Asn870=) (rs587780618)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166331 SCV000217117 likely benign Hereditary cancer-predisposing syndrome 2014-10-30 criteria provided, single submitter clinical testing
Color RCV000166331 SCV000682064 likely benign Hereditary cancer-predisposing syndrome 2015-10-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586240 SCV000694232 uncertain significance not provided 2017-06-09 criteria provided, single submitter clinical testing Variant summary: The ATM c.2610C>T (p.Asn870Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may abrogate the binding sites for splicing enhancers. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been found in 3/121594 control chromosomes at a frequency of 0.0000247, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). This variant has been reported as a germline variant in one BrC pt without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign, without evidence for independent evaluation. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000122835 SCV000166093 likely benign Ataxia-telangiectasia syndrome 2017-12-08 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000166331 SCV000787855 likely benign Hereditary cancer-predisposing syndrome 2017-09-12 no assertion criteria provided clinical testing

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