ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5743-2A>G

dbSNP: rs752310721
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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 RCV001994308 SCV002274387 likely pathogenic not provided 2021-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant is present in population databases (rs752310721, ExAC 0.008%). This sequence change affects an acceptor splice site in intron 41 of the MYO7A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053).

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