ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1260+5G>A

dbSNP: rs587783769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146390 SCV000193675 likely pathogenic Severe X-linked myotubular myopathy 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146390 SCV000934648 uncertain significance Severe X-linked myotubular myopathy 2022-02-19 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. ClinVar contains an entry for this variant (Variation ID: 158911). This variant has been observed in individual(s) with clinical features of MTM1-related conditions (PMID: 31541013). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 11 of the MTM1 gene. It does not directly change the encoded amino acid sequence of the MTM1 protein. It affects a nucleotide within the consensus splice site.

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