ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1233+1G>A (rs886061623)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000315696 SCV000464120 uncertain significance Autosomal recessive polycystic kidney disease 2016-08-27 criteria provided, single submitter clinical testing The PKHD1 c.1233+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. The c.1233+1G>A variant was detected in two families with autosomal recessive polycystic kidney disease, including in a compound heterozygous state with a pathogenic missense variant in one individual and in a heterozygous state in one individual in whom the second variant could not be identified (Losekoot et al. 2005). Control data are not available for this variant, and it is not reported in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium despite being located in a region of good sequencing coverage. Therefore, the variant is presumed to be rare. Due to the potential impact of splice donor variants and the limited available evidence, the c.1233+1G>A variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive polycystic kidney disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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