ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.793-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center RCV003454384 SCV004190156 likely pathogenic Sideroblastic anemia 2 2021-03-25 criteria provided, single submitter clinical testing The c.793-1G>C variant is predicted to interfere with the splicing at the acceptor site of intron 6–exon 7 junction (total 7 coding exons) and disrupt the mitochondrial carrier protein domain. This variant is absent from the gnomAD database, indicating that it is not a common benign variant in the populations represented therein. This variant has not been reported in the medical literature or any human disease variant databases. However pathogenic disruptive variants, including one frameshift deletion and one nonsense variant, have been reported in association with autosomal recessive sideroblastic anemia 2 (PMID: 19412178, 29499877).

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