Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003007358 | SCV003305508 | uncertain significance | not provided | 2025-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 797 of the SLC4A1 protein (p.Val797Leu). This variant is present in population databases (rs761550289, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SLC4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2086181). 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 SLC4A1 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. |
| ARUP Laboratories, |
RCV003007358 | SCV005878664 | uncertain significance | not provided | 2024-10-23 | criteria provided, single submitter | clinical testing | The SLC4A1 c.2389G>C;p.Val797Leu variant (rs761550289), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 2086181). This variant is found predominantly in the Admixed American population with an allele frequency of 0.05% (18/34586 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.479). Due to limited information, the clinical significance of this variant is uncertain at this time. |