ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys) (rs772281075)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189492 SCV000243135 uncertain significance not provided 2013-06-05 criteria provided, single submitter clinical testing p.Arg459Cys (CGC>TGC): c.1375 C>T in the SPTAN1 gene. The Arg459Cys missense change in the SPTAN1 gene 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 Cysteine residue. It alters a highly conserved position in the fifth spectrin repeat of the protein, and in silico analysis predict it may be damaging to protein structure/function. However, previously reported pathogenic mutations that have been reported in the SPTAN1 gene have been in-frame deletion or duplications located within the last four spectrin repeats of the protein, which are essential for dimerization (Saitsu et al., 2010; Hamdan et al., 2012). Based on the currently available information, it is unclear whether Arg459Cys on its own is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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