ClinVar Miner

Submissions for variant NM_020451.3(SELENON):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00005  dbSNP: rs121908184
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482307 SCV000567022 pathogenic not provided 2015-06-26 criteria provided, single submitter clinical testing The c.1 A>G variant in the SEPN1 gene has been identified previously, both in the compound heterozygousand homozygous state, in patients with SEPN1-related disorders. Patient's presented with multiple featuresincluding rigid spine, nasal speech and various histological findings including minicores (Ferreiro et al., 2002;Maggi et al., 2013). The variant alters the initiator Methionine codon, and the resultant protein would bedescribed as p.Met1?" to signify that it is not known if the loss of Met1 means that all protein translation iscompletely prevented or if an abnormal protein is produced using an alternate Methionine initiator codon.Therefore, c.1 A>G is considered a pathogenic variant."
Labcorp Genetics (formerly Invitae), Labcorp RCV000004748 SCV000758294 pathogenic Eichsfeld type congenital muscular dystrophy 2023-02-04 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SELENON mRNA. The next in-frame methionine is located at codon 85. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of the initiator codon has been observed in individuals with SELENON-related conditions (PMID: 12192640, 23394784, 28558865). ClinVar contains an entry for this variant (Variation ID: 4491). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV002288464 SCV002581201 pathogenic Congenital myopathy with fiber type disproportion 2021-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504747 SCV002816949 likely pathogenic Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 2021-11-15 criteria provided, single submitter clinical testing
OMIM RCV000004748 SCV000024924 pathogenic Eichsfeld type congenital muscular dystrophy 2006-03-01 no assertion criteria provided literature only

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