ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.-11_81del (p.Met1fs)

dbSNP: rs1557813850
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413324 SCV000491638 pathogenic not provided 2018-01-25 criteria provided, single submitter clinical testing The c.-11_81del92 variant in the SEPN1 gene has been reported previously, using alternate nomenclature c.-19_+73del92, in the homozygous state in one family with Mallory-body myopathy (Ferreiro et al., 2004), and in a patient with multiminicore disease who was heterozygous for the c.-11_81del92 variant and heterozygous for another SEPN1 variant (Clarke et al., 2006). The c.-11_81del92 variant causes the deletion of 92 nucleotides starting upstream of and including the ATG translational start site. It is not known if the loss of the translation start codon means that all protein translation is completed prevented, or if an abnormal protein is produced using an alternate Methionine. No data from control populations were available to assess the frequency of this variant. We interpret c.-11_81del92 as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000501710 SCV000597001 pathogenic Congenital myopathy with fiber type disproportion 2016-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001060927 SCV001225647 pathogenic Eichsfeld type congenital muscular dystrophy 2022-09-06 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: 373075). This variant is also known as c.-19_+73del92 and c.1-11_81del92. Disruption of the initiator codon has been observed in individual(s) with autosomal recessive SELENON-related myopathy (PMID: 16365872, 28688748). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects the initiator methionine of the SELENON mRNA. The next in-frame methionine is located at codon 85.
Revvity Omics, Revvity RCV001060927 SCV002020052 pathogenic Eichsfeld type congenital muscular dystrophy 2022-12-14 criteria provided, single submitter clinical testing
OMIM RCV001060927 SCV000024931 pathogenic Eichsfeld type congenital muscular dystrophy 2006-03-01 no assertion criteria provided literature only

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