ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del)

dbSNP: rs760375899
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817814 SCV002069254 uncertain significance not specified 2018-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869787 SCV002174469 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2022-03-10 criteria provided, single submitter clinical testing This variant, c.843_845del, results in the deletion of 1 amino acid(s) of the DCDC2 protein (p.Glu281del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760375899, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DCDC2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV002473303 SCV002769923 uncertain significance not provided 2024-07-10 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-frame deletion of one amino acid in a non-repeat region
Fulgent Genetics, Fulgent Genetics RCV002489885 SCV002778212 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2024-05-09 criteria provided, single submitter clinical testing

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