ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) (rs796053322)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189524 SCV000243167 uncertain significance not provided 2012-10-31 criteria provided, single submitter clinical testing p.Lys2103Arg (AAA>AGA):c.6308 A>G in exon 49 of the SPTAN1 gene (NM_001130438.1) The Lys2103Arg 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 Lys2013Arg in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. This amino acid substitution is conservative, as both Arginine and Lysine are positively charged amino acids. Lys2103Arg alters a highly conserved position in the 22nd spectrin repeat of the protein, and multiple in silico algorithms predict it may be damaging to protein structure/function. However, previously reported pathogenic mutations in SPTAN1 are in frame deletions or duplications located within the last spectrin repeat of the protein (Saitsu et al., 2010). Therefore, based on the currently available information, it is unclear whether Lys2103Arg is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV000189524 SCV000633791 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing

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