ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.734_737del (p.Gln245fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003037247 SCV003440045 pathogenic Myoclonic dystonia 11 2022-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as 733delAATT. This premature translational stop signal has been observed in individual(s) with SGCE-related conditions (PMID: 12325078). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln245Argfs*10) in the SGCE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCE are known to be pathogenic (PMID: 12821748, 15389977, 17853490, 24297365).

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