ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) (rs766641715)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666120 SCV000790363 pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763282 SCV000893926 pathogenic Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001038543 SCV001202018 pathogenic not provided 2020-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1373*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766641715, ExAC 0.03%). This variant has been observed in individuals affected with Usher syndrome (PMID: 16470552, 21436283). ClinVar contains an entry for this variant (Variation ID: 551138). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.

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