ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr)

gnomAD frequency: 0.00003  dbSNP: rs771364071
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000505542 SCV001528696 uncertain significance Polycystic kidney disease, adult type 2018-07-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002461262 SCV002757658 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing Reported with two additional PKD1 variants in a patient with cystic kidney disease in published literature (Bekheirnia et al., 2021); p.(A2033T) and p.(Q2354P) were inherited from the patient's affected father; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35368817)
Fulgent Genetics, Fulgent Genetics RCV000505542 SCV002793761 uncertain significance Polycystic kidney disease, adult type 2021-08-03 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505542 SCV000599881 uncertain significance Polycystic kidney disease, adult type 2017-04-20 no assertion criteria provided clinical testing

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