Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003342129 | SCV004061624 | uncertain significance | Inborn genetic diseases | 2023-06-28 | criteria provided, single submitter | clinical testing | The c.10681A>G (p.I3561V) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 10681, causing the isoleucine (I) at amino acid position 3561 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003420670 | SCV004114711 | uncertain significance | PKHD1-related disorder | 2022-10-24 | criteria provided, single submitter | clinical testing | The PKHD1 c.10681A>G variant is predicted to result in the amino acid substitution p.Ile3561Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51524243-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |