ClinVar Miner

Submissions for variant NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) (rs111033201)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000036073 SCV000487454 likely pathogenic Usher syndrome, type 1 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000409801 SCV000487455 likely pathogenic Deafness, autosomal recessive 2 2016-11-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000443077 SCV000862221 pathogenic not provided 2018-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000763277 SCV000893921 pathogenic Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000443077 SCV000521011 pathogenic not provided 2017-11-06 criteria provided, single submitter clinical testing The R669X pathogenic variant in the MYO7A gene has been reported previously in the homozygous state or with another MYO7A variant in multiple individuals with Usher syndrome (Bonnet et al., 2011; Roux et al., 2011; Bujakowska et al., 2014; Krawitz et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R669X variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. We interpret R669X as a pathogenic variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036073 SCV000059725 pathogenic Usher syndrome, type 1 2013-11-22 criteria provided, single submitter clinical testing The Arg669X variant in MYO7A has been previously reported in at least 4 individuals with Usher syndrome (Bonnet 2011, Roux 2011, LMM-unpublished data). It has also been identified in 1/8322 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu; dbSNP rs111033201), though this frequency in the general population is consistent with a recessive carrier frequency. This nonsense variant leads to a premature termination codon at position 669, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
NIHR Bioresource Rare Diseases,University of Cambridge RCV000504864 SCV000599116 pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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