Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001335464 | SCV001528617 | uncertain significance | Intellectual disability, autosomal dominant 43 | 2018-08-09 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Labcorp Genetics |
RCV002546735 | SCV003016243 | uncertain significance | not provided | 2024-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 323 of the HIVEP2 protein (p.Met323Val). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with HIVEP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033140). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. |
| Ambry Genetics | RCV003169565 | SCV003913354 | uncertain significance | Inborn genetic diseases | 2023-03-02 | criteria provided, single submitter | clinical testing | The c.967A>G (p.M323V) alteration is located in exon 5 (coding exon 1) of the HIVEP2 gene. This alteration results from a A to G substitution at nucleotide position 967, causing the methionine (M) at amino acid position 323 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |