ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) (rs782255281)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220369 SCV000271419 pathogenic Rare genetic deafness 2015-06-10 criteria provided, single submitter clinical testing The p.Cys705X variant in MYO7A has been reported as a homozygous variant in one individual with Usher syndrome type 1 (Yoshimura 2014). It has also been identif ied in 2/8608 East Asian chromosomes by the Exome Aggregation Consortium (http:/ /exac.broadinstitute.org). Although this variant has been seen in the general po pulation, its frequency is low enough to be consistent with a recessive carrier frequency. This nonsense variant creates a premature termination codon at positi on 705 and is predicted to lead to a truncated or absent protein. In summary, th is variant meets our criteria to be classified as pathogenic for Usher syndrome (www.partners.org/personalizedmedicine/lmm).
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770844 SCV000902345 pathogenic Deafness, autosomal recessive 2 2019-02-26 no assertion criteria provided case-control

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