ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.9014T>C (p.Val3005Ala) (rs876659968)

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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 RCV000222608 SCV000276964 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-21 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes) ;Insufficient or conflicting evidence;Insufficient evidence
Integrated Genetics/Laboratory Corporation of America RCV000587373 SCV000694390 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing Variant summary: The ATM c.9014T>C (p.Val3005Ala) variant located in the protein kinase-like domain causes a missense change involving a conserved nucleotide with 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predicting a "damaging" outcome, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP), nor has it been to our knowledge reported in affected individuals via publications. One clinical diagnostic laboratory has cited the variant as "uncertain significance." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Color RCV000222608 SCV000904877 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-13 criteria provided, single submitter clinical testing

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