Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003414150 | SCV004109255 | uncertain significance | PKHD1-related disorder | 2023-05-15 | criteria provided, single submitter | clinical testing | The PKHD1 c.220A>C variant is predicted to result in the amino acid substitution p.Ser74Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51947251-T-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |