ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.5531+1G>A

dbSNP: rs727503309
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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 RCV000151394 SCV000199402 pathogenic Rare genetic deafness 2014-10-17 criteria provided, single submitter clinical testing The c.5531+1G>A variant in MYO15A has not been previously reported in individual s with hearing loss and was absent from large population studies. This variant o ccurs in the invariant region (+ 1/2) of the 5' splice site consensus sequence a nd is predicted to cause altered splicing leading to an abnormal or absent prote in. In summary, this variant meets our criteria to be classified as pathogenic f or sensorineural hearing loss in an autosomal recessive manner (www.partners.org /personalizedmedicine/LMM).
Molecular Diagnosis Center for Deafness RCV001254925 SCV001332617 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2020-02-27 criteria provided, single submitter case-control

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