Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002883651 | SCV003636176 | uncertain significance | Inborn genetic diseases | 2022-08-01 | criteria provided, single submitter | clinical testing | The c.7031C>T (p.T2344I) alteration is located in exon 47 (coding exon 47) of the PKD1L1 gene. This alteration results from a C to T substitution at nucleotide position 7031, causing the threonine (T) at amino acid position 2344 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003574995 | SCV004369226 | uncertain significance | not provided | 2024-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2344 of the PKD1L1 protein (p.Thr2344Ile). This variant is present in population databases (rs368138078, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PKD1L1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2304493). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PKD1L1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |