ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3503+9C>T (rs1481745974)

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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 RCV000614173 SCV000712278 likely benign not specified 2016-06-23 criteria provided, single submitter clinical testing p.Pro1171Leu in exon 27A of MYO7A: This variant is not expected to have clinical significance because the proline (Pro) at position 1171 is not conserved in mam mals or evolutionarily distant species with 3 mammals (marmoset, squirrel monkey , Guinea pig) carry a leucine (Leu) at this position. It has also been identifi ed in 2/30018 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Of note, the variant results in a missense var iant in only 1 transcript isoform of MYO7A (NM_001127179.2) and lies in an intro nic region in all other transcript isoforms of the gene.

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