ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)

dbSNP: rs757704417
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335811 SCV001529049 pathogenic Dyslexia, susceptibility to, 2 2018-09-20 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002498782 SCV002811076 pathogenic Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2022-04-11 criteria provided, single submitter clinical testing
Invitae RCV002515058 SCV003281254 pathogenic Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2022-04-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser42Glnfs*72) 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). This variant is present in population databases (rs757704417, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with DCDC2-related conditions (PMID: 25557784, 27469900). ClinVar contains an entry for this variant (Variation ID: 180688). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000157643 SCV000207600 pathogenic Nephronophthisis 19 2015-01-08 no assertion criteria provided literature only
OMIM RCV000477717 SCV000564216 pathogenic Isolated neonatal sclerosing cholangitis 2015-01-08 no assertion criteria provided literature only

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