ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1379_1381AAG[2] (p.Glu462del) (rs373709012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493151 SCV000582839 uncertain significance not provided 2017-05-17 criteria provided, single submitter clinical testing The c.1385_1387delAAG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 26/8652 (0.301%) alleles from individuals of East Asian background in the ExAC dataset (Lek et al., 2016). The variant results in the in-frame deletion of Glutamic acid 462, a residue which is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001085101 SCV000766518 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2019-12-31 criteria provided, single submitter clinical testing

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