ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.94+5G>A

gnomAD frequency: 0.00002  dbSNP: rs754004382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894636 SCV002132266 uncertain significance Progressive myoclonic epilepsy 2021-08-19 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. This variant has not been reported in the literature in individuals affected with GOSR2-related conditions. This variant is present in population databases (rs754004382, ExAC 0.003%). This sequence change falls in intron 2 of the GOSR2 gene. It does not directly change the encoded amino acid sequence of the GOSR2 protein. It affects a nucleotide within the consensus splice site of the intron.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004762210 SCV005373878 uncertain significance Muscular dystrophy, congenital, with or without seizures 2024-09-22 criteria provided, single submitter clinical testing

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