ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)

dbSNP: rs1057516263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411034 SCV000485375 likely pathogenic Autosomal recessive polycystic kidney disease 2015-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411034 SCV002243485 pathogenic Autosomal recessive polycystic kidney disease 2023-01-08 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: 370138). This premature translational stop signal has been observed in individual(s) with clinical features of polycystic kidney disease (PMID: 15108281). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn1532*) 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).

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