ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2905-1G>C

dbSNP: rs1171417339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238259 SCV001411060 likely pathogenic not provided 2019-11-05 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 MYO7A are known to be pathogenic (PMID: 8900236, 25404053). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 28041643). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 23 of the MYO7A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
New York Genome Center RCV001839034 SCV002099273 uncertain significance Usher syndrome type 1 2021-04-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834062 SCV002086647 likely pathogenic Usher syndrome type 1B 2020-07-01 no assertion criteria provided clinical testing

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