ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)

gnomAD frequency: 0.00013  dbSNP: rs780408550
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Total submissions: 2
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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 RCV003236460 SCV003934675 uncertain significance not specified 2023-05-26 criteria provided, single submitter clinical testing Variant summary: PKD1 c.4252A>T (p.Thr1418Ser) results in a conservative amino acid change located in the PKD domain (IPR000601) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 248688 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4252A>T 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 uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005021872 SCV005643275 likely benign Polycystic kidney disease, adult type 2024-01-22 criteria provided, single submitter clinical testing

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