ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.643del (p.Gln215fs)

dbSNP: rs2047931126
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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 RCV001229877 SCV001402337 pathogenic Eichsfeld type congenital muscular dystrophy 2022-04-23 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 956974). This variant has not been reported in the literature in individuals affected with SELENON-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln215Argfs*14) in the SELENON gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SELENON are known to be pathogenic (PMID: 21131290, 21670436).

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