ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.100G>A (p.Gly34Arg)

dbSNP: rs2128244638
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001730184 SCV001977608 uncertain significance Polycystic kidney disease 4 2021-10-14 criteria provided, single submitter clinical testing The variant has not yet been listed in the dbSNP database or in gnomAD or ClinVar (as of October 12, 2021). It has already been reported in the literature as a "variant of uncertain significance" in a patient with the clinical diagnosis of ARPKD in compound heterozygosity with another PKHD1 variant classified as likely pathogenic (Obeidova et al., 2020). In bioinformatics, the change is classified as "disease causing" (CADDphred 32). Based on the current state of knowledge, the variant is to be classified as a "variant of unclear clinical significance" (ACMG criteria).

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