ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter)

gnomAD frequency: 0.00002  dbSNP: rs765934021
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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 RCV001048012 SCV001212001 pathogenic Autosomal recessive polycystic kidney disease 2023-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 845029). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs765934021, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln3636*) 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).
GeneDx RCV004794481 SCV005414803 pathogenic not provided 2024-05-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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