ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs)

dbSNP: rs794727572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177755 SCV000229682 pathogenic not provided 2014-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003502521 SCV004329458 pathogenic Autosomal recessive polycystic kidney disease 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1776Profs*3) 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 variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 196878). For these reasons, this variant has been classified as Pathogenic.

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