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 uncertain significance not specified 2019-11-08 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.7911+19T>C alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational 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 0.0005 in 251520 control chromosomes in the gnomAD database, including 1 homozygote. This frequency is not significantly higher than expected for a pathogenic variant in PKHD1 causing Polycystic Kidney and Hepatic Disease (0.0005 vs 0.0071), allowing no conclusion about variant significance. c.7911+19T>C has been reported in the literature in at least one individual affected with Polycystic Kidney and Hepatic Disease (Sharp_2005). This report does 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. One other clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar (evaluation after 2014) and cited the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000670468 SCV002396478 benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing

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