ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu)

gnomAD frequency: 0.00006  dbSNP: rs368430972
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Total submissions: 3
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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 RCV000151392 SCV000199400 uncertain significance not specified 2013-06-20 criteria provided, single submitter clinical testing The p.Phe1616Leu variant in MYO15A has not been reported in individuals with hea ring loss, but has been identified in 4/65798 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368430972) . Computational analyses (biochemical amino acid properties, conservation, Align GVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of this variant cannot b e determined without additional data.
PreventionGenetics, part of Exact Sciences RCV003927459 SCV004745375 likely benign MYO15A-related disorder 2024-01-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477791 SCV000536823 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2015-11-03 no assertion criteria provided research

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