ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter)

dbSNP: rs1566754467
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV000766108 SCV000897586 pathogenic Hereditary spherocytosis 2018-12-04 criteria provided, single submitter clinical testing This nonsense mutation generates a premature termination codon (Glu1355*) which should lead to NMD. The mutation might affect splicing by an alternative donor site. This would lead to a frameshift and a premature termination codon, too. Nonsense mutations further downstream in SPTB are reported in HGMD.

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