ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4442-1G>C

dbSNP: rs1485456037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658619 SCV000780397 likely pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375470 SCV001572143 pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Strong
Invitae RCV000658619 SCV003197107 likely pathogenic not provided 2022-05-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 33 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 present in population databases (no rsID available, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 21873662). ClinVar contains an entry for this variant (Variation ID: 546685). 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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