Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003404356 | SCV004103752 | uncertain significance | PKHD1-related disorder | 2023-09-06 | criteria provided, single submitter | clinical testing | The PKHD1 c.3538G>A variant is predicted to result in the amino acid substitution p.Gly1180Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Alternative variant at this codon p.Gly1180Glu has been observed in homozygous state in an individual with cystic kidney disease (Al-Hamed et al. 2016. PubMed ID: 26862157). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |