ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) (rs1057517857)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413055 SCV000490899 pathogenic not provided 2016-01-25 criteria provided, single submitter clinical testing The Q1242X nonsense variant in the MYO7A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1242X variant 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. Although this variant has not been reported previously to our knowledge, we interpret it as pathogenic.
Counsyl RCV000670142 SCV000794961 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763280 SCV000893924 pathogenic Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing

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