ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1354-2A>T

dbSNP: rs781835307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239440 SCV001412315 likely pathogenic Severe X-linked myotubular myopathy 2019-11-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MTM1 are known to be pathogenic (PMID: 9305655, 10063835). This variant has not been reported in the literature in individuals with MTM1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change affects an acceptor splice site in intron 12 of the MTM1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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