ClinVar Miner

Submissions for variant NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)

dbSNP: rs387906472
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Total submissions: 4
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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, University Hospital Muenster 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
GeneReviews RCV000011228 SCV000057777 not provided X-linked erythropoietic protoporphyria no assertion provided literature only

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