ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1148dup (p.His383fs)

gnomAD frequency: 0.00001  dbSNP: rs761072755
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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 RCV001385772 SCV001585735 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1072923). This variant has not been reported in the literature in individuals affected with SEPSECS-related conditions. This variant is present in population databases (rs761072755, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.His383Glnfs*3) 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).
Baylor Genetics RCV003147632 SCV003835208 likely pathogenic Pontocerebellar hypoplasia type 2D 2022-05-09 criteria provided, single submitter clinical testing

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