ClinVar Miner

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

dbSNP: rs143216377
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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, Mass General Brigham 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 Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-01-03 criteria provided, single submitter clinical testing
Invitae RCV001476029 SCV001680232 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001476029 SCV001871260 uncertain significance not provided 2021-08-06 criteria provided, single submitter clinical testing In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001271757 SCV001453183 uncertain significance Usher syndrome type 1B 2020-01-24 no assertion criteria provided clinical testing

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