ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7911+19T>C

gnomAD frequency: 0.00040  dbSNP: rs201017366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670468 SCV000795322 uncertain significance Autosomal recessive polycystic kidney disease 2017-11-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780597 SCV000917998 likely benign not specified 2025-01-09 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.7911+19T>C alters a conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00033 in 1576366 control chromosomes in the gnomAD database, including 2 homozygotes. This frequency is not higher than the maximum estimated for a pathogenic variant in PKHD1 causing Polycystic Kidney And Hepatic Disease (0.0071). The variant, c.7911+19T>C, has been reported in the literature in individuals affected with polycystic kidney disease (e.g. Sharp_2005, Nigro_2023), however, no supportive evidence for causality was provided. These reports do not provide unequivocal conclusions about association of the variant with Polycystic Kidney And Hepatic 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: 15805161, 37372416). ClinVar contains an entry for this variant (Variation ID: 554778). Based on the evidence outlined above, the variant was classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000670468 SCV002396478 benign Autosomal recessive polycystic kidney disease 2024-12-31 criteria provided, single submitter clinical testing

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