ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8303-1G>A (rs786204241)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168405 SCV000219099 pathogenic Autosomal recessive polycystic kidney disease 2015-01-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 52 and is expected to disrupt mRNA splicing. Consensus splice site changes in PKHD1 are known to be pathogenic (PMID: 15805161). This particular sequence change has not been reported in the literature. This sequence change has been observed in an individual affected with autosomal recessive polycystic kidney disease (Invitae database). Furthermore, family studies established that it occurred in trans with a known pathogenic variant. For these reasons, this sequence change has been classified as Pathogenic.

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