ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8340+5G>A

gnomAD frequency: 0.00001  dbSNP: rs752773977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000603042 SCV000712176 uncertain significance not specified 2016-06-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The c.8340+5G>A variant in MYO15A has not been previously reported in individuals with hearing loss. This variant was identified in 1/66250 European chromosomes and in 1/1650 4 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs752773977). This variant is located in the 5' splic e region. Computational tools suggest an impact to splicing. However, this infor mation is not predictive enough to determine pathogenicity. In summary, while th ere is some suspicion for a pathogenic role, the clinical significance of the c. 8340+5G>A variant is uncertain.
Molecular Diagnosis Center for Deafness RCV002224969 SCV001984952 pathogenic Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing

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