ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) (rs370104824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585238 SCV000692721 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000608684 SCV000712137 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.Pro1053Ser variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but it has been identified in 2/9468 Afri can chromosomes and in 4/64768 European chromosomes by the Exome Aggregation Con sortium (ExAC,; dbSNP rs370104824). Although this variant has been seen in the general population, its frequency is not high enou gh to rule out a pathogenic role. Computational prediction tools and conservatio n analyses do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Pro1053Ser variant is uncertain .

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