ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9690+1G>A

dbSNP: rs2142404134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnosis Center for Deafness RCV002051749 SCV001984974 pathogenic Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing
Shenzhen Maternity and Child Healthcare Hospital, Institute of Maternal and Child Medicine Research RCV002051749 SCV004171061 pathogenic Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558850 SCV004298177 pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1297080). Disruption of this splice site has been observed in individual(s) with nonsyndromic deafness (PMID: 26011067, 33597575). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 59 of the MYO15A 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 MYO15A are known to be pathogenic (PMID: 17546645).
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV002051749 SCV001949931 pathogenic Autosomal recessive nonsyndromic hearing loss 3 no assertion criteria provided case-control

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