ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1799C>A (p.Ala600Asp) (rs745720603)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189496 SCV000243139 uncertain significance not provided 2014-08-05 criteria provided, single submitter clinical testing p.Ala600Asp (GCT>GAT): c.1799 C>A in exon 14 of the SPTAN1 gene (NM_001130438.2) The A600D 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. The A600D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution alters a conserved position in the predicted 7th spectrin repeat of the SPTAN1 protein. However, 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 A600 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 INFANT-EPI panel(s).

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