ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3588A>G (p.Lys1196=) (rs376524625)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163406 SCV000213948 likely benign Hereditary cancer-predisposing syndrome 2014-07-10 criteria provided, single submitter clinical testing
Color RCV000163406 SCV000682148 likely benign Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779757 SCV000916533 uncertain significance not specified 2018-10-05 criteria provided, single submitter clinical testing Variant summary: ATM c.3588A>G alters a conserved nucleotide resulting in a synonymous change. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.9e-05 in 245538 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3588A>G has been reported in the literature (Buzin 2003, Decker 2017), however these reports do not provide unequivocal conclusions about association of the variant with Ataxia-Telangiectasia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and both laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000205348 SCV000259717 likely benign Ataxia-telangiectasia syndrome 2017-12-27 criteria provided, single submitter clinical testing

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