ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6749_6750del (p.Thr2250fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003236459 SCV003934674 pathogenic Polycystic kidney disease, adult type 2023-05-26 criteria provided, single submitter clinical testing Variant summary: PKD1 c.6749_6750delCG (p.Thr2250SerfsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 248510 control chromosomes. To our knowledge, no occurrence of c.6749_6750delCG in individuals affected with Polycystic Kidney Disease 1 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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