ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5877_5882del (p.1959AQ[1])

dbSNP: rs2544808048
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002285671 SCV002575272 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing Observed in trans with a second variant in a patient with prenatal-onset polycystic kidneys in published literature (Durkie et al., 2021); of note, this variant was inherited from an unaffected parent with a family history of polycystic kidney disease; In-frame deletion of 2 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33168999)

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