ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) (rs750358148)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482515 SCV000565299 likely pathogenic not provided 2018-03-02 criteria provided, single submitter clinical testing The P1243L missense change in the MYO7A gene has not been reported as pathogenic or as a benign polymorphism to our knowledge. The P1243L amino acid substitution is semi-conservative as both Proline and Leucine are non-polar and neutral residues. However, the loss of a Proline residue with its unique structure may affect the structure of the protein. The residue at which this substitution occurs is well conserved in the myosin VIIA protein. According to the Human Gene Mutation Database (HGMD) other missense variants in nearby codons (R1240Q and P1244R) have been reported in association with Usher syndrome type 1. The P1243L variant was not observed in approximately 6,300 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Therefore, P1243L is a strong candidate for a pathogenic variant, although the possibility that it is a benign polymorphism cannot be completely excluded.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504890 SCV000599122 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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