ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) (rs797044517)

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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 RCV000156304 SCV000206022 uncertain significance not specified 2014-01-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile1158Val vari ant in MYO7A has not been previously reported in individuals with hearing loss. Data from large population studies is insufficient to assess the frequency of th is variant. Computational analyses (amino acid biochemical properties, conservat ion, AlignGVGD, PolyPhen2, SIFT) suggest that the Ile1158Val variant may not imp act the protein, though this information is not predictive enough to rule out pa thogenicity. In summary, the clinical significance of this variant cannot be det ermined with certainty; however based the computational data, we would lean towa rds a more likely benign role.
Counsyl RCV000671980 SCV000797029 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2018-01-10 criteria provided, single submitter clinical testing

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