ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)

dbSNP: rs2151512054
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001892922 SCV002163596 pathogenic Autosomal recessive polycystic kidney disease 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2736*) 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). This premature translational stop signal has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 32384486). ClinVar contains an entry for this variant (Variation ID: 1391134). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002478273 SCV002790634 pathogenic Polycystic kidney disease 4 2021-12-04 criteria provided, single submitter clinical testing

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