ClinVar Miner

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

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Total submissions: 3
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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.
Counsyl RCV000669320 SCV000794062 pathogenic Deafness, autosomal recessive 2 2017-09-07 no assertion criteria provided clinical testing

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