Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001957363 | SCV002205933 | uncertain significance | not provided | 2021-12-07 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 664 of the ELP1 protein (p.Cys664Arg). This variant is present in population databases (rs762636526, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. 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 tolerated. 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. |
Fulgent Genetics, |
RCV002491936 | SCV002788905 | uncertain significance | Medulloblastoma; Familial dysautonomia | 2022-03-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004044264 | SCV004078313 | uncertain significance | not specified | 2023-06-21 | criteria provided, single submitter | clinical testing | The c.1990T>C (p.C664R) alteration is located in exon 18 (coding exon 17) of the IKBKAP gene. This alteration results from a T to C substitution at nucleotide position 1990, causing the cysteine (C) at amino acid position 664 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |