ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile) (rs375195855)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189516 SCV000243159 uncertain significance not provided 2014-02-11 criteria provided, single submitter clinical testing p.Ser1724Ile (S1724I): c.5171 G>T. The S1724I 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. This variant is a non-conservative amino acid substitution of a polar Serine residue with a non-polar Isoleucine residue at a position that is not highly conserved across species. Additionally, previously reported pathogenic mutations in SPTAN1 include inframe deletions or duplications located within the last four spectrin repeats of the protein, which are essential for dimerization (Saitsu et al., 2010), and the Ser1724 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 S1742I is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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