ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.2012_2013del (p.Leu670_Tyr671insTer)

dbSNP: rs1564361862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693152 SCV000821008 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2018-06-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DCLRE1C gene (p.Tyr671*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acids of the DCLRE1C protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DCLRE1C-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Breakthrough Genomics, Breakthrough Genomics RCV004692125 SCV005190645 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001830514 SCV002091443 uncertain significance Athabaskan severe combined immunodeficiency 2020-07-26 no assertion criteria provided clinical testing

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