ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)

dbSNP: rs121918331
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000001179 SCV000915050 likely pathogenic Sideroblastic anemia 2 2018-11-09 criteria provided, single submitter clinical testing The SLC25A38 c.560G>C (p.Arg187Pro) missense variant has been reported in three studies and has been found in five individuals, including a sibling pair, with congenital sideroblastic anemia. One individual was homozygous for the variant while the others were compound heterozygous for the variant (Guernsey et al. 2009; Kannengiesser et al. 2011; An et al. 2015). The SLC25A38 p.Arg187Pro variant was absent from 251 healthy population controls but is reported at a frequency of 0.000116 in the European American population of the Exome Sequencing Project, however this is based on a single allele in a region of good sequencing coverage and the variant is presumed to be rare. Based on the evidence, the SLC25A38 p.Arg187Pro variant is classified as likely pathogenic for pyridoxine-refractory sideroblastic anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Mark Fleming Laboratory, Boston Children's Hospital RCV000001179 SCV001736688 pathogenic Sideroblastic anemia 2 2021-06-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002512636 SCV003525436 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 187 of the SLC25A38 protein (p.Arg187Pro). This variant is present in population databases (rs121918331, gnomAD 0.007%). This missense change has been observed in individual(s) with congenital sideroblastic anemia (PMID: 19412178). This variant is also known as c.937G>C. ClinVar contains an entry for this variant (Variation ID: 1120). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
OMIM RCV000001179 SCV000021329 pathogenic Sideroblastic anemia 2 2009-06-01 no assertion criteria provided literature only

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