ClinVar Miner

Submissions for variant NM_173543.3(DZIP1L):c.1000-4T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340685 SCV004047326 uncertain significance Polycystic kidney disease 5 criteria provided, single submitter clinical testing The splice region variant c.1000-4T>C in DZIP1L (NM_173543.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1000-4T>C variant is observed in 7/30,598 (0.0229%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The c.1000-4T>C variant is not predicted to disrupt splicing by any splice site algorithm. The nucleotide c.1000-4T>C in DZIP1L is not conserved according to a GERP++ and PhyloP analysis of 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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