ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val)

gnomAD frequency: 0.00001  dbSNP: rs755205622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mark Fleming Laboratory, Boston Children's Hospital RCV001526369 SCV001736692 pathogenic Sideroblastic anemia 2 2021-06-01 criteria provided, single submitter research
GeneDx RCV001751785 SCV001986378 uncertain significance not provided 2019-04-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29499877, 21393332)
Invitae RCV001751785 SCV003525211 uncertain significance not provided 2022-03-29 criteria provided, single submitter clinical testing This missense change has been observed in individuals with congenital sideroblastic anemia (PMID: 29499877). This variant is present in population databases (rs755205622, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 228 of the SLC25A38 protein (p.Gly228Val). ClinVar contains an entry for this variant (Variation ID: 1172495). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15").
Dr. Nikuei Genetic Center RCV001526369 SCV005061404 pathogenic Sideroblastic anemia 2 no assertion criteria provided clinical testing

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