ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2666_2668del (p.Ser889del) (rs796053332)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189541 SCV000243184 likely pathogenic not provided 2013-10-08 criteria provided, single submitter clinical testing c.2666_2668delCTC: p.Ser889del (S889del) in exon 19 of the SPTAN1 gene (NM_001130438.2). The normal sequence with the bases that are deleted in braces is: GACT{CTC}TGCA. The c.2666_2668delCTC variant has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of a single Serine residue at a conserved position in the spectrin 9 repeat. Previously reported pathogenic variants 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 p.Ser889 residue is outside this region. Therefore, based on the currently available information, it is likely this variant is a pathogenic variant; however, the possibility that it is a benign variant cannot be completely excluded.

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