ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) (rs781368899)

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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 RCV000627228 SCV000231864 pathogenic not provided 2014-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000627228 SCV000748217 pathogenic not provided 2018-03-14 criteria provided, single submitter clinical testing The Q3407X variant in the PKHD1 gene has been reported previously in the homozyous state or in trans with a second PKHD1 variant in multiple patients with ARPKD (Bergmann et al., 2004; Losekoot et al., 2005; Fischer et al., 2009; Becker et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q3407X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q3407X as a pathogenic variant.
GenomeConnect, ClinGen RCV000844922 SCV000986737 not provided Autosomal recessive polycystic kidney disease no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 03/26/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Yale Center for Mendelian Genomics,Yale University RCV000845132 SCV000987068 likely pathogenic Polycystic liver disease 2017-04-04 no assertion criteria provided literature only

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