ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4399del (p.Pro1466_Leu1467insTer)

dbSNP: rs2139533161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783812 SCV002023658 likely pathogenic not provided 2022-05-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004728817 SCV005336476 pathogenic SPTB-related disorder 2024-04-12 no assertion criteria provided clinical testing The SPTB c.4399delC variant is predicted to result in an in-frame deletion (p.Leu1467fs). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in SPTB are expected to be pathogenic. This variant is interpreted as pathogenic.

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