ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.702A>G (p.Ala234=) (rs752751588)

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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 RCV000563414 SCV000660469 likely benign Hereditary cancer-predisposing syndrome 2015-04-10 criteria provided, single submitter clinical testing
Color RCV000563414 SCV000682385 likely benign Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000445226 SCV000516955 likely benign not specified 2017-11-30 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 RCV000588596 SCV000694342 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The ATM c.702A>G (p.Ala234Ala) 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. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may introduce an SC35 ESE site at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC at a frequency of 0.0000247 (3/121300 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). Multiple clinical diagnostic laboratories/reputable databases have classified this variant as likely benign. To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000205528 SCV000261444 likely benign Ataxia-telangiectasia syndrome 2017-12-09 criteria provided, single submitter clinical testing

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