ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.409dup (p.Ala137fs)

dbSNP: rs2041767936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mark Fleming Laboratory, Boston Children's Hospital RCV001526383 SCV001736707 pathogenic Sideroblastic anemia 2 2021-06-01 criteria provided, single submitter research
Invitae RCV002568127 SCV002963117 pathogenic not provided 2022-05-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1172509). This premature translational stop signal has been observed in individual(s) with congenital sideroblastic anemia (PMID: 32605921). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala137Glyfs*16) in the SLC25A38 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A38 are known to be pathogenic (PMID: 19412178, 25985931).

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