ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9303+5G>A

dbSNP: rs1555547215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626938 SCV000747641 uncertain significance Congenital sensorineural hearing impairment 2017-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529799 SCV003016633 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing This sequence change falls in intron 55 of the MYO15A gene. It does not directly change the encoded amino acid sequence of the MYO15A protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with deafness (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 523518). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Statistical Genetics, Columbia University RCV004808805 SCV005431529 likely pathogenic Hearing loss, autosomal recessive 2024-11-08 criteria provided, single submitter research

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