ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.4779+5G>A

gnomAD frequency: 0.00001  dbSNP: rs772198042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948233 SCV002197853 uncertain significance not provided 2024-01-15 criteria provided, single submitter clinical testing This sequence change falls in intron 15 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 present in population databases (rs772198042, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYO15A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1428227). 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.
Fulgent Genetics, Fulgent Genetics RCV002491958 SCV002784184 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2022-05-23 criteria provided, single submitter clinical testing

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