ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg)

dbSNP: rs2125580580
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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 RCV001526367 SCV001736690 pathogenic Sideroblastic anemia 2 2021-06-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV005094713 SCV005834903 uncertain significance not provided 2024-09-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 190 of the SLC25A38 protein (p.Pro190Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital sideroblastic anemia (PMID: 21393332). ClinVar contains an entry for this variant (Variation ID: 1172493). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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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