ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)

dbSNP: rs1554227215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677707 SCV000803858 likely pathogenic Autosomal recessive polycystic kidney disease 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV000677707 SCV003221334 pathogenic Autosomal recessive polycystic kidney disease 2022-07-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559912). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln114*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839).

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