ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.780+6T>G

dbSNP: rs745917460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243969 SCV001417161 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2019-11-14 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the DCLRE1C gene. It does not directly change the encoded amino acid sequence of the DCLRE1C protein, but it affects a nucleotide within the consensus splice site of the intron. 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 conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.

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