ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2209A>G (p.Ile737Val) (rs1129922)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189497 SCV000243140 uncertain significance not provided 2012-06-06 criteria provided, single submitter clinical testing p.Ile737Val (ATC>GTC): c.2209 A>G in exon 17 of the SPTAN1 gene (NM_001130438.1) The Ile737Val missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project did not identify Ile737Val in approximately 5000 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as both Valine and Isoleucine are uncharged, non-polar amino acids. Ile737Val alters conserved position in the alpha-II spectrin protein; however, previously reported pathogenic mutations in SPTAN1 are located within the last four spectrin repeats, which are essential for dimerization (Saitsu et al., 2010), while the Ile737 residue is outside this region. Multiple in silico models predict the Ile737Val substitution is benign, although another predicts it may be damaging to protein structure/function. These findings suggest that Ile737Val is likely a rare benign variant; however, the possibility that it is disease-associated cannot be excluded at present. The variant is found in INFANT-EPI panel(s).

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