ClinVar Miner

Submissions for variant NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) (rs121918365)

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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 RCV000009642 SCV000914584 uncertain significance Hypochromic microcytic anemia with iron overload 2018-09-17 criteria provided, single submitter clinical testing The SLC11A2 c.1197G>C (p.Glu399Asp) variant is a missense variant that occurs in a splice region. It was identified in a single homozygous individual with hypochromic microcytic anemia with iron overload (Mims et al. 2005; Lam-Yuk-Tseung et al. 2005; Priwitzerova et al. 2005; Gunshin et al. 2005). The unaffected parents and sibling of the affected individual were confirmed carriers of the variant. The p.Glu399Asp variant was absent from 108 healthy controls and is reported at a frequency of 0.000067 in the European (non-Finnish) population of the Genome Aggregation Database. This frequency is based on one allele in a region of good sequencing coverage, so the variant is presumed to be rare. In addition to resulting in a full-length transcript containing a p.Glu399Asp amino acid substitution, this variant, which is also described as c.1285G>C, also disrupts normal splicing of pre-mRNA, leading to skipping of exon 12. Various methods of functional testing indicated that the full-length protein with the p.Glu399Asp variant behaved comparably to the wild type protein, whereas the protein lacking exon 12 was non-functional (Lam-Yuk-Tseung et al. 2005; Priwitzerova et al. 2005). Based on the available evidence, the p.Glu399Asp variant is classified as a variant of uncertain significance but suspicious for pathogenicity for hypochromic microcytic anemia with iron overload. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000009642 SCV000029860 pathogenic Hypochromic microcytic anemia with iron overload 2005-02-01 no assertion criteria provided literature only

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