ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1197del (p.Leu400fs)

dbSNP: rs766857175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387002 SCV001587472 pathogenic Autosomal recessive polycystic kidney disease 2022-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu400Cysfs*13) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073874). This premature translational stop signal has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 27225849). This variant is present in population databases (rs766857175, gnomAD 0.006%).

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