ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1258_1261dup (p.Gln421fs)

dbSNP: rs2147912678
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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 RCV001972459 SCV002245709 pathogenic Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2024-12-16 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the SYN1 gene (p.Gln421Profs*256). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 249 amino acid(s) of the SYN1 protein and extend the protein by 6 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SYN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1456713). This variant results in an extension of the SYN1 protein. Other variant(s) that result in a similarly extended protein product (p.Pro463Thrfs*213) have been determined to be pathogenic (internal data). This suggests that these extensions are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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