Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002045669 | SCV002305234 | uncertain significance | Hereditary spastic paraplegia 62 | 2024-01-15 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 151 of the ERLIN1 protein (p.Lys151Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ERLIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1512511). 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 not expected to disrupt ERLIN1 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. |
Ambry Genetics | RCV004917771 | SCV005581849 | uncertain significance | not specified | 2024-12-04 | criteria provided, single submitter | clinical testing | The c.451A>G (p.K151E) alteration is located in exon 6 (coding exon 6) of the ERLIN1 gene. This alteration results from a A to G substitution at nucleotide position 451, causing the lysine (K) at amino acid position 151 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |