ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter)

gnomAD frequency: 0.00002  dbSNP: rs747732980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001277783 SCV002814436 uncertain significance Pontocerebellar hypoplasia type 2D 2021-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537772 SCV003476882 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu464*) in the SEPSECS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 38 amino acid(s) of the SEPSECS protein. This variant is present in population databases (rs747732980, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SEPSECS-related conditions. ClinVar contains an entry for this variant (Variation ID: 989880). This variant disrupts a region of the SEPSECS protein in which other variant(s) (p.Glu477*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001277783 SCV001464752 uncertain significance Pontocerebellar hypoplasia type 2D 2020-08-13 no assertion criteria provided clinical testing

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