ClinVar Miner

Submissions for variant NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr)

gnomAD frequency: 0.00001  dbSNP: rs137852304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729346 SCV001976829 likely pathogenic X-linked sideroblastic anemia 1 2021-10-05 criteria provided, single submitter clinical testing PM2, PP2, PP3, PP5
OMIM RCV000011219 SCV000031446 pathogenic Sideroblastic anemia 1, late-onset 1995-10-01 no assertion criteria provided literature only

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