ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.3945+2dup (rs537031994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000276456 SCV000441434 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000485710 SCV000570959 uncertain significance not specified 2016-07-08 criteria provided, single submitter clinical testing The c.3945+2dupT variant in the ATR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 21, resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.3945+2dupT is unknown. The c.3945+2dupT variant variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3945+2dupT variant as a variant of uncertain significance.

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