ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5630_5633del (p.Asp1877fs)

dbSNP: rs1367454316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384998 SCV001584705 pathogenic not provided 2024-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1820Valfs*60) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1072312). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004728700 SCV005336434 likely pathogenic SZT2-related disorder 2024-07-17 no assertion criteria provided clinical testing The SZT2 c.5459_5462delACAG variant is predicted to result in a frameshift and premature protein termination (p.Asp1820Valfs*60). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating it is rare. Frameshift variants in SZT2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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