ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5464del (p.Thr1822fs)

dbSNP: rs1562140771
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780598 SCV000918002 likely pathogenic Autosomal recessive polycystic kidney disease 2017-12-11 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.5464delA (p.Thr1822GlnfsX152) 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; c.9689delA, p.Asp3230fsX34; c.10637delT, p.Val3546fsX22). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 245732 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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