ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.19-1G>A

dbSNP: rs111033426
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Total submissions: 3
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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 RCV000036067 SCV000059719 likely pathogenic Rare genetic deafness 2009-06-03 criteria provided, single submitter clinical testing
Counsyl RCV000666110 SCV000790352 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852739 SCV002291582 likely pathogenic not provided 2024-02-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 25468891). ClinVar contains an entry for this variant (Variation ID: 43163). 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.

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