ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.349-2A>G

gnomAD frequency: 0.00003  dbSNP: rs760040426
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731261 SCV000859056 pathogenic not provided 2018-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850190 SCV002167157 pathogenic Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2023-06-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs760040426, gnomAD 0.005%). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 3 (also known as exon 4 in literature) and introduces a premature termination codon (PMID: 25557784). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 180689). Disruption of this splice site has been observed in individual(s) with nephronophthisis-related ciliopathy (PMID: 25557784). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change affects an acceptor splice site in intron 2 of the DCDC2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV000157644 SCV002578138 pathogenic Nephronophthisis 19 2022-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498783 SCV002810537 pathogenic Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2021-10-20 criteria provided, single submitter clinical testing
OMIM RCV000157644 SCV000207601 pathogenic Nephronophthisis 19 2015-01-08 no assertion criteria provided literature only

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