ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2283-2_2293del

dbSNP: rs1555082041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666719 SCV000791064 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV002532055 SCV003216236 likely pathogenic not provided 2023-10-16 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 20 (c.2283-2_2293del) 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). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 551608). 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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