Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001851788 | SCV002131163 | pathogenic | not provided | 2023-01-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this frameshift affects ALAS2 function (PMID: 23263862). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 10482). This frameshift has been observed in individual(s) with X-linked dominant erythropoietic protoporphyria (PMID: 18760763). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the ALAS2 gene (p.Glu569Glyfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the ALAS2 protein and extend the protein by 4 additional amino acid residues. |
Institute of Human Genetics, |
RCV002287329 | SCV002577903 | likely pathogenic | Erythema | 2021-12-20 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PM2 |
OMIM | RCV000011228 | SCV000031455 | pathogenic | X-linked erythropoietic protoporphyria | 2013-04-01 | no assertion criteria provided | literature only | |
Gene |
RCV000011228 | SCV000057777 | not provided | X-linked erythropoietic protoporphyria | no assertion provided | literature only |