ClinVar Miner

Submissions for variant NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg)

dbSNP: rs1592380743
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
BloodGenetics RCV000984996 SCV003845993 pathogenic Microcytic anemia with liver iron overload 2022-04-08 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984996 SCV001132923 likely pathogenic Microcytic anemia with liver iron overload 2019-08-25 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003898004 SCV004713327 pathogenic SLC11A2-related disorder 2023-10-21 no assertion criteria provided clinical testing The SLC11A2 c.223G>A variant is predicted to result in the amino acid substitution p.Gly75Arg. This variant was reported in individuals with anaemia, hypochromic microcytic with or without iron overload (Blanco et al. 2009. PubMed ID: 19553145; Barrios et al. 2012. PubMed ID: 22313374; Romero-Cortadellas et al. 2022. PubMed ID: 35457224). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. In vitro experimental studies suggest this variant impacts protein function (Romero-Cortadellas et al. 2022. PubMed ID: 35457224). This variant is interpreted as pathogenic.

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