Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002612463 | SCV003514197 | uncertain significance | not provided | 2023-03-11 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with EPB41-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 35 of the EPB41 protein (p.Asn35Ser). This variant is present in population databases (rs373464494, gnomAD 0.009%). ClinVar contains an entry for this variant (Variation ID: 2194273). 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 EPB41 protein function. 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. |
| Revvity Omics, |
RCV003485819 | SCV004234700 | uncertain significance | Elliptocytosis 1 | 2023-03-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004070687 | SCV004863687 | uncertain significance | Inborn genetic diseases | 2023-10-14 | criteria provided, single submitter | clinical testing | The c.104A>G (p.N35S) alteration is located in exon 5 (coding exon 2) of the EPB41 gene. This alteration results from a A to G substitution at nucleotide position 104, causing the asparagine (N) at amino acid position 35 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |