ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5065del (p.Met1689fs) (rs1554198072)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587245 SCV000699866 likely pathogenic Autosomal recessive polycystic kidney disease 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.5065delA (p.Met1689Cysfs) variant results in a premature termination codon, predicted to cause a truncated or absent PKHD1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.9319C>T (p.Arg3107X) and c.9689delA (p.Asp3230fs)). The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publicatiosn and/or databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as "likely pathogenic."

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