ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs)

dbSNP: rs781277383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001867264 SCV002122001 pathogenic not provided 2023-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with SEPSECS-related conditions. This variant is present in population databases (rs781277383, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu343Cysfs*9) 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).
New York Genome Center RCV002266042 SCV002548827 likely pathogenic Pontocerebellar hypoplasia type 2D 2021-08-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002266042 SCV003815753 likely pathogenic Pontocerebellar hypoplasia type 2D 2022-06-29 criteria provided, single submitter clinical testing

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