Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003982551 | SCV004797137 | uncertain significance | PKHD1-related disorder | 2024-01-26 | criteria provided, single submitter | clinical testing | The PKHD1 c.716T>C variant is predicted to result in the amino acid substitution p.Val239Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |