ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.930del (p.Thr311fs) (rs398124501)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790780 SCV000225937 pathogenic not provided 2014-05-14 criteria provided, single submitter clinical testing
Invitae RCV000174614 SCV000260958 pathogenic Autosomal recessive polycystic kidney disease 2019-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr311Leufs*8) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs398124501, ExAC 0.01%). This variant has been observed in individual(s) undergoing exome sequencing for multiple congenital anomalies (PMID: 26633542). ClinVar contains an entry for this variant (Variation ID: 96442). Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000174614 SCV001163074 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
Counsyl RCV000174614 SCV001132268 likely pathogenic Autosomal recessive polycystic kidney disease 2015-07-08 no assertion criteria provided clinical testing

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