Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000234844 | SCV001368734 | likely pathogenic | Nephrolithiasis, calcium oxalate | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3. |
Ce |
RCV000681877 | SCV001371194 | likely pathogenic | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000681877 | SCV001381783 | uncertain significance | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 358 of the SLC26A1 protein (p.Ser358Leu). This variant is present in population databases (rs148832260, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with nephrolithiasis (PMID: 27210743, 30586318). ClinVar contains an entry for this variant (Variation ID: 242375). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC26A1 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects SLC26A1 function (PMID: 27210743, 36719378). 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. |
OMIM | RCV000234844 | SCV000292031 | pathogenic | Nephrolithiasis, calcium oxalate | 2023-05-15 | no assertion criteria provided | literature only | |
Gharavi Laboratory, |
RCV000681877 | SCV000809356 | pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |