ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1368A>G (p.Leu456=) (rs750579940)

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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 RCV000220448 SCV000278025 likely benign Hereditary cancer-predisposing syndrome 2015-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000587148 SCV000840916 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Color RCV000220448 SCV000681972 likely benign Hereditary cancer-predisposing syndrome 2017-03-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587148 SCV000694181 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing Variant summary: The ATM c.1368A>G (p.Leu456Leu) 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 3/121338 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). 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.
Invitae RCV000226836 SCV000282869 likely benign Ataxia-telangiectasia syndrome 2017-07-20 criteria provided, single submitter clinical testing

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