ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7735_7737del (p.Gly2579del)

dbSNP: rs748240352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005054409 SCV005688051 uncertain significance not provided 2025-02-07 criteria provided, single submitter clinical testing Observed with a second variant in a patient with polycystic kidney disease in published literature; of note, both variants are present on the same allele (in cis) and segregate with disease in affected individuals from a single family (PMID: 11571556); In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25266109, 11571556)

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