ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4153-8C>G (rs143216377)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156221 SCV000205937 likely benign not specified 2013-11-26 criteria provided, single submitter clinical testing 4153-8C>G in intron 31 of MYO7A: This variant has not been previously reported i n individuals with hearing loss but has been identified in 1% (3/298) chromosome s of African descendant by the 1000 Genomes Project (http://www.1000genomes.org; dbSNP rs143216377). This variant is located within the 3' splice consensus, but not the invariant sequence. Computational tools suggest no impact to splicing, though this information is not predictive enough to rule out pathogenicity. In s ummary, this variant is likely benign based upon its high frequency and lack of predicted splicing impact.
Counsyl RCV000664878 SCV000788902 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-01-03 criteria provided, single submitter clinical testing

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