ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) (rs774283264)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189499 SCV000243142 uncertain significance not provided 2013-06-19 criteria provided, single submitter clinical testing p.Arg801Gln (CGA>CAA): c.2402 G>A in exon 17 of the SPTAN1 gene (NM_001130438.1) The Arg801Gln 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. The amino acid substitution is non-conservative as a positively charged Arginine residue is replaced by an uncharged Glutamine residue and it alters a conserved position in the alpha-II spectrin protein. However, 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 Arg801 residue is outside this region. In addition, in-silico algorithms are not consistent in their predictions of whether Arg801gln is damaging to the structure/function of the protein. Therefore, based on the currently available information, it is unclear whether Arg801Gln is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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