ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6910_6918dup (p.Gln2304_Gly2306dup) (rs796053334)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189544 SCV000243187 likely pathogenic not provided 2012-05-03 criteria provided, single submitter clinical testing p.Gln2304_Gly2306dup: c.6910_6918dupCAGCTGGGC in exon 53 of the SPTAN1 gene (NM_001130438.2) The c.6910_6918dupCAGCTGGGC variant in the SPTAN1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame duplication of three highly conserved amino acids in the last spectrin repeat of the protein, beginning at codon Glutamine 2304 and ending at codon Glycine 2306. Previously reported pathogenic mutations in SPTAN1 include in-frame deletions or duplications located in the last four spectrin repeats, which are essential for dimerization (Saitsu et al., 2010). A de novo in-frame duplication of two neighboring amino acids (p.Arg2308_Met2309dup) was identified in a patient with West syndrome and severe hypomyelination, confirming the functional importance of this region of the protein (Saitsu et al., 2010). Therefore, c.6910_6918dupCAGCTGGGC is a strong candidate for a disease-causing mutation, although the possibility that it is a benign variant cannot be excluded at present. The variant is found in INFANT-EPI panel(s).

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