ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) (rs121918330)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760470 SCV000890359 pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing The R117X variant in the SLC25A38 gene has been reported previously in both the homozygous state, and the heterozygous state in the presence of a second SLC25A38 variant, in association with sideroblastic anemia (Guernsey et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R117X as a pathogenic variant.
OMIM RCV000001177 SCV000021327 pathogenic Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 2009-06-01 no assertion criteria provided literature only

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