ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7911+19T>C (rs201017366)

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Total submissions: 2
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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
Integrated Genetics/Laboratory Corporation of America RCV000780597 SCV000917998 uncertain significance not specified 2018-08-24 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. The variant allele was found at a frequency of 0.00049 in 277236 control chromosomes in the gnomAD database, including 1 homozygotes. This frequency is not significantly higher than expected for a pathogenic variant in PKHD1 causing Polycystic Kidney and Hepatic Disease (0.00049 vs 0.0071), allowing no conclusion about variant significance. c.7911+19T>C has been reported in the literature in an individual affected with Polycystic Kidney and Hepatic Disease (Sharp_2015). This report does not provide an unequivocal conclusion 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. A ClinVar submission from another clinical diagnostic laboratory (evaluation after 2014) cites the variant as "uncertain significance." Based on the evidence outlined above, the variant was classified as uncertain significance.

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