ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) (rs397516309)

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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 RCV000036141 SCV000059793 likely benign not specified 2011-02-17 criteria provided, single submitter clinical testing Val1454Ile in exon 33 of MYO7A: This variant is not expected to have clinical si gnificance because computational analyses (PolyPhen2, SIFT, AlignGVGD) do not su ggest a high likelihood of impact to the protein. Of note, fruitfly has an isole ucine at this position despite high nearby amino acid conservation.
Counsyl RCV000666151 SCV000790395 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-03-17 criteria provided, single submitter clinical testing

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