ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln)

dbSNP: rs121918331
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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 RCV001526360 SCV001736678 pathogenic Sideroblastic anemia 2 2021-06-01 criteria provided, single submitter research
Invitae RCV003558832 SCV004292678 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 187 of the SLC25A38 protein (p.Arg187Gln). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with congenital sideroblastic anemia (PMID: 21393332, 25985931, 31642437, 32605921, 32790119, 34298585). ClinVar contains an entry for this variant (Variation ID: 1172486). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC25A38 protein function with a positive predictive value of 80%. 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.

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