ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) (rs1554204054)

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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 RCV000590265 SCV000699859 likely pathogenic Autosomal recessive polycystic kidney disease 2017-01-23 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.3158_3159delGA (p.Gly1053Valfs) 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 likely pathogenic/pathogenic by our laboratory (e.g. c.3761_3762delinsG (p.Ala1254fs), c.9319C>T (p.Arg3107X), and c.9689delA (p.Asp3230fs)). The variant of interest was not observed in controls, nor has it been, to our knowledge, reported in affected individuals via publications 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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