Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003245668 | SCV003952140 | uncertain significance | Inborn genetic diseases | 2023-04-13 | criteria provided, single submitter | clinical testing | The c.1701A>C (p.E567D) alteration is located in exon 19 (coding exon 18) of the PKHD1 gene. This alteration results from a A to C substitution at nucleotide position 1701, causing the glutamic acid (E) at amino acid position 567 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003900999 | SCV004710085 | uncertain significance | PKHD1-related disorder | 2024-02-27 | criteria provided, single submitter | clinical testing | The PKHD1 c.1701A>C variant is predicted to result in the amino acid substitution p.Glu567Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |