ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)

gnomAD frequency: 0.00006  dbSNP: rs727503328
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Total submissions: 5
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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 RCV000151504 SCV000199591 uncertain significance not specified 2014-02-20 criteria provided, single submitter clinical testing The Ala1286Thr variant in MYO7A has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, additional information is needed to determine the clinical significance of this variant.
Counsyl RCV000666382 SCV000790663 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-04-03 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073912 SCV001239477 uncertain significance Retinal dystrophy 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV001314043 SCV001504557 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273494 SCV001456605 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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