ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met)

gnomAD frequency: 0.00006  dbSNP: rs544100161
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002113 SCV001159960 likely benign Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001002113 SCV002803429 likely benign Polycystic kidney disease, adult type 2021-11-11 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001002113 SCV006055086 likely benign Polycystic kidney disease, adult type 2023-07-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408634 SCV006071979 uncertain significance not specified 2025-03-21 criteria provided, single submitter clinical testing Variant summary: PKD1 c.8780C>T (p.Thr2927Met) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 242750 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in PKD1 causing PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease, allowing no conclusion about variant significance. c.8780C>T has been reported in the literature in heterozygous or compound heterozygous individuals affected with Polycystic Kidney Disease (Jin_2016, Fujimaru_2018) or intracranial aneurysms without kidney disease (Hirota_2016). These report(s) do not provide unequivocal conclusions about association of the variant with PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 29520754, 27567292, 27782177, 27835667). ClinVar contains an entry for this variant (Variation ID: 811768). Based on the evidence outlined above, the variant was classified as uncertain significance.

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