ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV002282763 SCV002570285 uncertain significance Sideroblastic anemia 2 2022-03-03 criteria provided, single submitter clinical testing This SLC25A38 variant (rs1301345110) is rare (<0.1%) in a large population dataset (gnomAD: 1/31388 total alleles; 0.003%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be damaging, and the lysine residue at this position is strongly conserved across the vertebrate species assessed. Bioinformatic analysis predicts that this variant would not affect normal exon 2 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of this variant to be uncertain at this time.

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