ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp)

gnomAD frequency: 0.00005  dbSNP: rs148356158
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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 RCV001582373 SCV001821333 uncertain significance not specified 2021-08-20 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.3368G>A (p.Gly1123Asp) results in a non-conservative amino acid change located in the IPT domain (IPR002909) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 251350 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.3368G>A in individuals affected with Polycystic Kidney And Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001827534 SCV002080998 uncertain significance Autosomal recessive polycystic kidney disease 2019-07-10 no assertion criteria provided clinical testing

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