ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val) (rs780622472)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189517 SCV000243160 uncertain significance not provided 2014-12-29 criteria provided, single submitter clinical testing p.Ile1747Val (ATC>GTC): c.5239 A>G in exon 41 of the SPTAN1 gene (NM_001130438.2) The I1747V 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. This substitution occurs at a position that is highly conserved across mammals; however, Valine is observed at this position in multiple species in distant evolution. The I1747V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, 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 I1747 residue is outside this region. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. 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 EPILEPSYV2-1 panel(s).

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