ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His)

gnomAD frequency: 0.00029  dbSNP: rs201794696
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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 RCV000221367 SCV000270494 likely benign not specified 2015-08-11 criteria provided, single submitter clinical testing p.Arg3374His in exon 63 of MYO15A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, >10 mammals have a histidine (His) at this position despite high nearby amino acid sequence conservation. In addition, computational prediction tools d o not suggest a high likelihood of impact to the protein. It has been identified in 0.13% (12/9514) of African chromosomes by the Exome Aggregation Consortium ( ExAC, http://exac.broadinstitute.org; dbSNP rs201794696).
Athena Diagnostics Inc RCV000992395 SCV001144639 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing
Invitae RCV000992395 SCV002351390 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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