ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)

dbSNP: rs1309003036
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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 RCV000799457 SCV000939120 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg97*) in the SEPSECS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SEPSECS are known to be pathogenic (PMID: 25558065, 25590979, 26115735). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 645393). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002507382 SCV002813850 likely pathogenic Pontocerebellar hypoplasia type 2D 2021-12-14 criteria provided, single submitter clinical testing

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