ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) (rs775634580)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189484 SCV000243127 uncertain significance not provided 2013-07-26 criteria provided, single submitter clinical testing p.Arg123His (CGT>CAT): c.368 G>A in exon 4 of the SPTAN1 gene (NM_001130438.1) The Arg123His missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one positively charged, polar amino acid for another at a position that is conserved across species. Previously reported pathogenic mutations in SPTAN1 include in-frame deletions or duplications located within the last four spectrin repeats of the protein, which are essential for dimerization (Saitsu et al., 2010), and the Arg123 residue is outside this region. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Arg123His is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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