ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr) (rs201046979)

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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 RCV000036058 SCV000059710 likely benign not specified 2011-11-01 criteria provided, single submitter clinical testing Ala536Thr in exon 14 of MYO7A: This variant is not expected to have clinical sig nificance because it has been identified by our laboratory in one individual who also carried two pathogenic MYO7A variants. In addition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein primarily based upon a lack of conservation across species including mam mals. Of note, opossum, chicken, frog and zebrafish have a threonine (Thr) at th is position despite high nearby amino acid conservation.

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