ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4880A>T (p.Gln1627Leu) (rs786203857)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167347 SCV000218199 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000167347 SCV000904616 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779772 SCV000916562 uncertain significance not specified 2018-01-02 criteria provided, single submitter clinical testing Variant summary: The ATM c.4880A>T (p.Gln1627Leu) variant involves the alteration of a conserved nucleotide and is predicted to be damaging by 4/4 in silico tools (SNPsandGO not captured due to low reliability index). This variant is absent in 246170 control chromosomes (gnomAD). One clinical diagnostic laboratory has classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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