ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) (rs796053323)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415933 SCV000493677 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000415933 SCV000243169 uncertain significance not provided 2014-07-01 criteria provided, single submitter clinical testing p.Arg2142Cys (CGC>TGC): c.6424 C>T in exon 49 of the SPTAN1 gene (NM_001130438.2) The R2142C variant 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 R2142C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. 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 Arg2142 is predicted to be in spectrin 22, which is in this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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