ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)

dbSNP: rs1554198717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671958 SCV000797005 pathogenic Autosomal recessive polycystic kidney disease 2018-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671958 SCV003439395 pathogenic Autosomal recessive polycystic kidney disease 2022-05-22 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: 556021). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 27225849). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1473*) 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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