ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) (rs111033192)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036205 SCV000059857 pathogenic Rare genetic deafness 2009-10-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388623 SCV000374474 likely pathogenic MYO7A-Related Disorders 2017-04-27 criteria provided, single submitter clinical testing The MYO7A c.5824G>T (p.Gly1942Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. The p.Gly1942Ter variant has been reported in three studies in which it is found in a total of seven patients including in five in a compound heterozygous state, in one in heterozygous state, and in one allele in a study of 100 Danish patients where zygosity was not specified (Jacobson et al. 2011; Le Quesne Stabej et al. 2011; Dad et al. 2016). The p.Gly1942Ter variant was absent from 486 controls but is reported at a frequency of 0.00004 in the European (non-Finnish) population of the Exome Aggregation Consortium. This frequency is based on two alleles in a region of low sequence coverage. Based on the evidence, the p.Gly1942Ter variant is classified as likely pathogenic for MYO7A-related disorders, although notably has only been described in patients with Usher syndrome and appears to be inherited in an autosomal recessive manner. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Baylor Genetics RCV000665920 SCV001163703 pathogenic Usher syndrome type 1 criteria provided, single submitter clinical testing
Invitae RCV001204875 SCV001376103 pathogenic not provided 2019-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1942*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs111033192, ExAC 0.004%). This variant has been observed in several individuals affected with Usher syndrome (PMID: 21873662, 22135276). ClinVar contains an entry for this variant (Variation ID: 43300). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000665920 SCV000790126 pathogenic Usher syndrome type 1 2017-06-05 no assertion criteria provided clinical testing

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