ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs)

dbSNP: rs863224528
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200756 SCV000253970 pathogenic Autosomal recessive polycystic kidney disease 2015-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in PKHD1 are known to be pathogenic (PMID: 1569842). This sequence change inserts 1 nucleotide in exon 48 of the PKHD1 mRNA (c.7560dupT), causing a frameshift at codon 2521. This creates a premature translational stop signal (p.Ala2521Cysfs*63) and is expected to result in an absent or disrupted protein product.

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