ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) (rs121965085)

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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 RCV000151490 SCV000199563 pathogenic Rare genetic deafness 2014-01-15 criteria provided, single submitter clinical testing The p.Arg666X variant in MYO7A has been reported in 4 individuals with Usher syn drome type I, 3 of whom carried a second MYO7A variant (Janecke 1999, Pennings 2 004, Ouyang 2005, Bonnet 2011). This variant has been identified in 4/110570 Eu ropean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro; dbSNP rs121965085), which is low enough to be consistent with a recessive carrier frequency. This nonsense variant leads to a premature termina tion codon at position 666, which is predicted to lead to a truncated or absent protein. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome. ACMG/AMP criteria applied: PVS1, PM2.
Counsyl RCV000669149 SCV000793867 pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-09-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091731 SCV001247933 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV001091731 SCV001380306 pathogenic not provided 2019-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg666*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121965085, ExAC 0.004%). This variant has been observed in individuals affected with Usher syndrome (PMID: 10094549, 15660226, 21569298). ClinVar contains an entry for this variant (Variation ID: 11860). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012635 SCV000032870 pathogenic Usher syndrome, type 1B 2005-03-01 no assertion criteria provided literature only

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