ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5530G>A (p.Gly1844Arg)

gnomAD frequency: 0.00004  dbSNP: rs375748088
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Total submissions: 1
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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 RCV000611163 SCV000711109 uncertain significance not specified 2017-11-15 criteria provided, single submitter clinical testing The p.Gly1844Arg variant in MYH14 has not been previously reported in individual s with hearing loss, but has been identified in 3/126420 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSN P rs375748088). Computational prediction tools and conservation analysis suggest that the p.Gly1844Arg variant may impact the protein, though this information i s not predictive enough to determine pathogenicity. In summary, the clinical sig nificance of the p.Gly1844Arg variant is uncertain. ACMG/AMP Criteria applied: P P3.

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