ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) (rs397516317)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036187 SCV000059839 pathogenic Rare genetic deafness 2010-04-08 criteria provided, single submitter clinical testing The Gln1798X variant has been reported in at least 6 probands with Usher syndrom e type 1 (Jacobson 2008, Bharadwaj 2000, Janecke 1999, Pennings 2004, Roux 2006) . In addition, the Gln1798X variant leads to a premature stop codon at position 1798 and therefore, is predicted to lead to a truncated or absent protein. In su mmary, this variant is highly likely to be pathogenic.
GeneDx RCV000413379 SCV000490658 pathogenic not provided 2016-05-17 criteria provided, single submitter clinical testing The Q1798X nonsense variant in the MYO7A gene has been reported previously in the compound heterozygous state along with another disease-causing MYO7A variant in an individual with Usher syndrome type 1B (Janecke et al., 1999). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Q1798X was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q1798X as a pathogenic variant.
Blueprint Genetics RCV001074754 SCV001240349 pathogenic Retinal dystrophy 2019-05-19 criteria provided, single submitter clinical testing
Invitae RCV000413379 SCV001384187 pathogenic not provided 2020-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1798*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs397516317, ExAC 0.003%). This variant has been observed in several individuals affected with Usher syndrome (PMID: 25404053, 28559085, 10094549). ClinVar contains an entry for this variant (Variation ID: 43282). 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 RCV000669320 SCV000794062 pathogenic Deafness, autosomal recessive 2 2017-09-07 no assertion criteria provided clinical testing
Natera, Inc. RCV001273512 SCV001456623 pathogenic Usher syndrome, type 1B 2020-09-16 no assertion criteria provided clinical testing

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