ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs)

dbSNP: rs1195276132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896687 SCV002173081 pathogenic Autosomal recessive polycystic kidney disease 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn3586Serfs*22) 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). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464216 SCV004204678 pathogenic Polycystic kidney disease 4 2024-02-24 criteria provided, single submitter clinical testing

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