ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) (rs397516315)

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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 RCV000036166 SCV000059818 pathogenic Rare genetic deafness 2010-08-13 criteria provided, single submitter clinical testing The Tyr1607X variant in MYO7A has not been reported in the literature nor previo usly identified by our laboratory. However, this variant leads to a premature st op codon at codon 1607, which is predicted to lead to a truncated or absent prot ein. In summary, this variant meets our criteria to be classified as pathogenic.
Counsyl RCV000670662 SCV000795546 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-11-09 criteria provided, single submitter clinical testing
Invitae RCV001201930 SCV001373025 pathogenic not provided 2019-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1607*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs397516315, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 43261). 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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