ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.678+5G>A

dbSNP: rs750695358
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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 RCV000696279 SCV000824831 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-10-05 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the DCLRE1C gene. It does not directly change the encoded amino acid sequence of the DCLRE1C protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs750695358, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 574359). Variants that disrupt 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. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002060877 SCV002496094 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 2021-07-20 criteria provided, single submitter clinical testing DCLRE1C NM_001033855.1 intron 8 c.678+5G>A: This variant has not been reported in the literature but is present in 0.002% (2/67870) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/10-14934375-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:574359). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Natera, Inc. RCV001272389 SCV001454373 uncertain significance Athabaskan severe combined immunodeficiency 2019-10-28 no assertion criteria provided clinical testing

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