ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6396A>G (p.Leu2132=) (rs370537345)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163612 SCV000214179 likely benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
Color RCV000163612 SCV000682332 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
Counsyl RCV000196587 SCV000793666 likely benign Ataxia-telangiectasia syndrome 2017-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000439854 SCV000515515 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588696 SCV000694322 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing Variant summary: The ATM c.6396A>G (p.Leu2132Leu) 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. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121196 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign until additional evidence becomes available.
Invitae RCV000196587 SCV000252972 likely benign Ataxia-telangiectasia syndrome 2018-01-04 criteria provided, single submitter clinical testing

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