ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) (rs747095250)

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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,Partners HealthCare Personalized Medicine RCV000599670 SCV000712084 uncertain significance not specified 2016-05-16 criteria provided, single submitter clinical testing The p.Gln2208X variant in MYO7A has not been previously reported in individuals with hearing loss. This variant was identified in 1/1250 Latino and 1/17806 Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins; dbSNP rs747095250). Although this variant has been seen in the gener al population, its frequency is not high enough to rule out a pathogenic role. T his nonsense variant leads to a premature termination codon at amino acid positi on 2208. There are a total of 2216 amino acids in the MYO7A protein (NM_000260. 3). Therefore, this alteration occurs within the terminal 50 bases of the last e xon and is more likely to escape nonsense mediated decay (NMD) and result in a t runcated protein. Whether the truncation of 8 amino acids disrupts the function of the MYO7A protein is unknown. In summary, the clinical significance of the p. Gln2208X variant is uncertain.

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