ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val) (rs397516300)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036108 SCV000059760 benign not specified 2014-08-11 criteria provided, single submitter clinical testing Ile1157Val in exon 27A of MYO7A: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 12 mammals have a valine (Val) at this position despite high nearby amino acid conservation. In addition, computational analyses do not suggest a high lik elihood of impact to the protein.

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