ClinVar Miner

Submissions for variant NM_001271696.3(ABCB7):c.1936-3C>G

dbSNP: rs1602330362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001005016 SCV001164578 uncertain significance X-linked sideroblastic anemia with ataxia 2023-05-02 criteria provided, single submitter curation The hemizygous c.1939-3C>G variant in ABCB7 was identified by our study in one individual with sideroblastic anemia. The c.1939-3C>G variant in ABCB7 has not been previously reported in individuals with X-linked sideroblastic anemia with ataxia. This variant was absent from large population studies. This variant has also been reported in Clinvar (Variation ID: 814010) and has been interpreted as a variant of uncertain significance by the Broad Institute Rare Disease Group. This variant is located in the 3' splice region. Computational tools do suggest an impact to splicing. However, this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the c.406+4A>G variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3 (Richards 2015).

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