ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)

dbSNP: rs1554218666
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670899 SCV000795812 likely pathogenic Autosomal recessive polycystic kidney disease 2017-11-17 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics, Children's Memorial Health Institute RCV000670899 SCV001434255 pathogenic Autosomal recessive polycystic kidney disease 2020-09-25 criteria provided, single submitter clinical testing
Invitae RCV000670899 SCV003451048 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. 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. ClinVar contains an entry for this variant (Variation ID: 555142). This missense change has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 12874454, 15108281, 31844813, 32398770). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 3124 of the PKHD1 protein (p.His3124Tyr).
Baylor Genetics RCV003465502 SCV004204816 likely pathogenic Polycystic kidney disease 4 2021-12-24 criteria provided, single submitter clinical testing

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