ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)

dbSNP: rs727504087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790790 SCV000229570 pathogenic not provided 2013-11-22 criteria provided, single submitter clinical testing
Counsyl RCV000177668 SCV000795970 likely pathogenic Autosomal recessive polycystic kidney disease 2017-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177668 SCV004365695 pathogenic Autosomal recessive polycystic kidney disease 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1578Phefs*14) 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). This variant is present in population databases (rs727504087, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 167487). For these reasons, this variant has been classified as Pathogenic.

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