ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.711_714del (p.Met238fs) (rs786204588)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725880 SCV000340221 pathogenic not provided 2016-03-24 criteria provided, single submitter clinical testing
Invitae RCV000169335 SCV000932569 pathogenic Autosomal recessive polycystic kidney disease 2018-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met238Serfs*7) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another PKHD1 variant in several individuals affected with autosomal recessive polycystic kidney disease (PMID: 11898128, 19940839, 15805161). ClinVar contains an entry for this variant (Variation ID: 188960). Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000169335 SCV000220680 pathogenic Autosomal recessive polycystic kidney disease 2018-03-05 no assertion criteria provided clinical testing

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