ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)

gnomAD frequency: 0.00001  dbSNP: rs1050411259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002475927 SCV002803067 pathogenic Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2021-12-24 criteria provided, single submitter clinical testing
Invitae RCV002525737 SCV003439274 pathogenic Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2022-09-02 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with neonatal sclerosing cholangitis (PMID: 27469900). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 417768). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu297*) in the DCDC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DCDC2 are known to be pathogenic (PMID: 27319779, 27469900).
OMIM RCV000477711 SCV000564219 pathogenic Isolated neonatal sclerosing cholangitis 2017-03-28 no assertion criteria provided literature only

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