ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) (rs121918331)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000001179 SCV000915050 likely pathogenic Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 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.
OMIM RCV000001179 SCV000021329 pathogenic Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 2009-06-01 no assertion criteria provided literature only

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