ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg)

dbSNP: rs140458350
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Total submissions: 2
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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 RCV001175518 SCV001339124 uncertain significance not specified 2020-03-23 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.1258G>C (p.Gly420Arg) results in a non-conservative amino acid change located in the PA14/GLEYA domain (IPR037524) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250464 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1258G>C in individuals affected with Polycystic Kidney and Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001833734 SCV002081084 uncertain significance Autosomal recessive polycystic kidney disease 2020-11-13 no assertion criteria provided clinical testing

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