Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003901986 | SCV004714778 | uncertain significance | PKHD1-related disorder | 2024-02-14 | criteria provided, single submitter | clinical testing | The PKHD1 c.10789T>C variant is predicted to result in the amino acid substitution p.Phe3597Leu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ambry Genetics | RCV004369747 | SCV005006764 | uncertain significance | Inborn genetic diseases | 2024-03-01 | criteria provided, single submitter | clinical testing | The c.10789T>C (p.F3597L) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a T to C substitution at nucleotide position 10789, causing the phenylalanine (F) at amino acid position 3597 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |