ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6027T>G (p.Tyr2009Ter) (rs1554766334)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579211 SCV000681196 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SPTAN1 gene. The Y2009X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. The Y2009X nonsense variant in the SPTAN1 gene is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). However, 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 Y2009 residue is outside this region. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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