ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8639_8640del (p.Pro2880fs)

dbSNP: rs756611351
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817614 SCV000958183 pathogenic not provided 2022-11-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is present in population databases (rs756611351, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Pro2823Argfs*14) in the SZT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SZT2 are known to be pathogenic (PMID: 23932106, 27248490, 28556953). ClinVar contains an entry for this variant (Variation ID: 660423). For these reasons, this variant has been classified as Pathogenic.

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