ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)

gnomAD frequency: 0.00001  dbSNP: rs1229349983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675040 SCV000800470 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000675040 SCV002284473 likely pathogenic Autosomal recessive polycystic kidney disease 2023-02-24 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3762 of the PKHD1 protein (p.Pro3762Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with polycystic kidney disease (PMID: 16133180, 26673778). ClinVar contains an entry for this variant (Variation ID: 558729). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PKHD1 protein function.
Baylor Genetics RCV003465541 SCV004204712 likely pathogenic Polycystic kidney disease 4 2023-03-16 criteria provided, single submitter clinical testing

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