ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) (rs774759689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410933 SCV000486497 likely pathogenic Autosomal recessive polycystic kidney disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000410933 SCV001390386 pathogenic Autosomal recessive polycystic kidney disease 2019-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1829*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs774759689, ExAC 0.009%). This variant has been observed in combination with another PKHD1 variant in several individuals affected with autosomal recessive polycystic kidney disease (PMID: 19940839, 24162162). ClinVar contains an entry for this variant (Variation ID: 371036). Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). For these reasons, this variant has been classified as Pathogenic.

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