ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4295del (p.Val1432fs) (rs1246693314)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555749 SCV000629917 pathogenic Autosomal recessive polycystic kidney disease 2017-02-15 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 32 of the PKHD1 mRNA (c.4295delT), causing a frameshift at codon 1432. This creates a premature translational stop signal (p.Val1432Glyfs*3) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). For these reasons, this variant has been classified as Pathogenic.

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