ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)

gnomAD frequency: 0.00011  dbSNP: rs767665300
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506637 SCV000604801 uncertain significance not specified 2017-02-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506237 SCV002815965 uncertain significance Polycystic kidney disease, adult type 2024-03-26 criteria provided, single submitter clinical testing
GeneDx RCV003231513 SCV003929647 uncertain significance not provided 2025-03-11 criteria provided, single submitter clinical testing Reported in a patient with polycystic kidney disease in published literature (PMID: 25646624); clinical information is limited; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 35903967, 30476936, 25646624, 37372416)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002506237 SCV006052559 uncertain significance Polycystic kidney disease, adult type 2021-09-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506637 SCV006072834 uncertain significance not specified 2025-04-22 criteria provided, single submitter clinical testing Variant summary: PKD1 c.4835C>T (p.Thr1612Met) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.4e-05 in 249504 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in PKD1 causing Polycystic Kidney Disease 1 (8.4e-05 vs 0.0005), allowing no conclusion about variant significance. c.4835C>T has been observed in heterozygous individual(s) affected with clinical features of Polycystic Kidney Disease 1 (Eisenberger_2015, Rasouly_2019, Nigro_2023). These data do not allow any conclusion about variant significance. 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: 25646624, 37372416, 30476936, 35918752). ClinVar contains an entry for this variant (Variation ID: 440129). Based on the evidence outlined above, the variant was classified as uncertain significance.

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