ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.18+2T>A

dbSNP: rs564622720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674636 SCV000800006 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2018-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855611 SCV002310473 pathogenic not provided 2024-09-23 criteria provided, single submitter clinical testing This sequence change affects a donor 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 present in population databases (rs564622720, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with autosomal recessive deafness and/or Usher syndrome (PMID: 27068579, 32531858). ClinVar contains an entry for this variant (Variation ID: 558377). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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