ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2094+1G>A

dbSNP: rs111033404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036075 SCV000059727 pathogenic Rare genetic deafness 2010-12-23 criteria provided, single submitter clinical testing The 2094+1G>A variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. The 2094+1G>A variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant re gion of the splice consensus sequence. In summary, this variant meets our criter ia to be classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852740 SCV002255605 likely pathogenic not provided 2021-11-08 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. 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: 43171). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is present in population databases (rs111033404, gnomAD 0.003%). This sequence change affects a donor splice site in intron 17 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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