Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000815783 | SCV000956254 | uncertain significance | Lipoic acid synthetase deficiency | 2022-03-11 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 658876). This variant has not been reported in the literature in individuals affected with LIAS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.06%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 257 of the LIAS protein (p.Gln257Glu). |
| Ambry Genetics | RCV003243329 | SCV003941609 | uncertain significance | Inborn genetic diseases | 2023-04-05 | criteria provided, single submitter | clinical testing | The c.769C>G (p.Q257E) alteration is located in exon 8 (coding exon 8) of the LIAS gene. This alteration results from a C to G substitution at nucleotide position 769, causing the glutamine (Q) at amino acid position 257 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |