ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)

dbSNP: rs2151096983
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967873 SCV002221718 uncertain significance Congenital myasthenic syndrome 4A 2023-04-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1441274). This variant is also known as Arg286Met. This variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 22678886; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 306 of the CHRNE mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CHRNE protein. This variant also falls at the last nucleotide of exon 8, which is part of the consensus splice site for this exon.
Fulgent Genetics, Fulgent Genetics RCV002507652 SCV002806208 uncertain significance Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 2021-11-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146394 SCV003833684 uncertain significance not provided 2020-04-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001967873 SCV004212598 pathogenic Congenital myasthenic syndrome 4A 2024-02-20 criteria provided, single submitter clinical testing

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