ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7062del (p.Ala2355fs)

dbSNP: rs1583203255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004197 SCV001163033 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001004197 SCV002236022 pathogenic Autosomal recessive polycystic kidney disease 2021-09-24 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: 813378). This premature translational stop signal has been observed in individual(s) with clinical features of polycystic kidney disease (PMID: 23582048). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala2355Leufs*60) 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).
Baylor Genetics RCV003461306 SCV004204746 pathogenic Polycystic kidney disease 4 2022-12-29 criteria provided, single submitter clinical testing

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