ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly) (rs766038302)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189522 SCV000243165 uncertain significance not provided 2013-03-14 criteria provided, single submitter clinical testing p.Trp2070Gly (TGG>GGG): c.6208 T>G in exon 48 of the SPTAN1 gene (NM_001130438.1) The Trp2070Gly missense change 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 has not identified Trp2070Gly in approximately 6,500 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 Tryptophan and Glycine are both uncharged, non-polar amino acids. It alters a highly conserved position in the 21st spectrin repeat of the protein, and multiple in silico algorithms predict it may be damaging to protein structure/function. However, all previously reported pathogenic mutations in SPTAN1 are in-frame deletions or duplications, and missense mutations have not been reported in association with epilepsy. Therefore, based on the currently available information, it is unclear whether Trp2070Gly is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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