ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1618dup (p.Ser540fs)

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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 RCV004587654 SCV005073673 likely pathogenic Hereditary spherocytosis type 2 2024-06-11 criteria provided, single submitter clinical testing The nonsense variant c.1618dup for p.(Ser540Lysfs*7) leads to a premature STOP codon. Due to the nonsense variant and the possibility of nonsense mediated decay, a null variant with loss of function is created in a gene where loss of function is a common mechanism of disease. This variant is absent from controls in the Genome Aggregation Database. This variant is considered be likely pathogenic according to the ACMG guidelines.

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