ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn) (rs757714696)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189511 SCV000243154 uncertain significance not provided 2017-09-25 criteria provided, single submitter clinical testing p.Asp1509Asn (GAC>AAC): c.4525 G>A in exon 35 of the SPTAN1 gene (NM_001130438.2) The Asp1509Asn missense change in the SPTAN1 gene 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 variant is a non-conservative amino acid substitution of a negatively charged Aspartic acid residue with an uncharged Asparagine residue at a position that is conserved through mammals but is not conserved in more distantly related species. 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 Asp1509 residue is outside this region. Additionally, in silico analysis predicts this variant likely has a benign effect on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Asp1509Asn is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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