ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu)

gnomAD frequency: 0.00002  dbSNP: rs200733734
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730746 SCV000858509 uncertain significance not provided 2017-12-05 criteria provided, single submitter clinical testing
Invitae RCV001418303 SCV001620528 likely benign Autosomal recessive polycystic kidney disease 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420301 SCV004117968 uncertain significance PKHD1-related disorder 2023-09-13 criteria provided, single submitter clinical testing The PKHD1 c.3953A>T variant is predicted to result in the amino acid substitution p.His1318Leu. This variant has been reported in a compound heterozygous or heterozygous state in multiple individuals with autosomal dominant polycystic kidney disease (Yu et al 2022. PubMed ID: 35778421). This variant is reported in 0.13% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51890655-T-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV000730746 SCV004169754 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing Identified with a second PKHD1 variant in a family with polycystic kidney disease, however, detailed clinical and segregation information were not provided (Yu et al., 2022); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35778421)

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