ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1690+1G>A

dbSNP: rs111033389
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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 RCV000036059 SCV000059711 likely pathogenic Rare genetic deafness 2008-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001227530 SCV001399891 pathogenic not provided 2023-01-05 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 21569298). For these reasons, this variant has been classified as 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: 43155). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 14 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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