ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)

dbSNP: rs1554194511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665876 SCV000790068 likely pathogenic Autosomal recessive polycystic kidney disease 2017-03-02 criteria provided, single submitter clinical testing
Invitae RCV000665876 SCV000937289 pathogenic Autosomal recessive polycystic kidney disease 2021-02-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 24162162). ClinVar contains an entry for this variant (Variation ID: 550965). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1816*) 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).
Natera, Inc. RCV000665876 SCV001459191 pathogenic Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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