ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)

dbSNP: rs1554167673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546671 SCV000629902 pathogenic Autosomal recessive polycystic kidney disease 2023-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp3871*) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 458588). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 11919560).
Baylor Genetics RCV004568753 SCV005056309 pathogenic Polycystic kidney disease 4 2024-02-24 criteria provided, single submitter clinical testing
Counsyl RCV000546671 SCV000792722 pathogenic Autosomal recessive polycystic kidney disease 2017-07-11 no assertion criteria provided clinical testing

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