ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3161+5G>A

dbSNP: rs2092552533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Neuroscience Centre, Sydney Children's Hospitals Network RCV001726511 SCV001571527 uncertain significance Polycystic kidney disease, adult type criteria provided, single submitter clinical testing Unable to detect any appreciable levels of abnormal splicing arising from the PKD1 c.3161+5G>A heterozygous (mosaic) variant in blood RNA. Exon 13 is a canonical exon present in PKD1 isoforms across multiple tissues including kidney, renal epithelium and blood. Therefore, splicing studies performed in blood hold relevance to the manifesting phenotype. However, levels of mosaicism may vary between tissues.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001726511 SCV005916307 uncertain significance Polycystic kidney disease, adult type 2020-01-09 criteria provided, single submitter clinical testing

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