ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10571C>A (p.Pro3524His) (rs1064793288)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478468 SCV000565650 likely pathogenic not provided 2013-05-14 criteria provided, single submitter clinical testing The P3524H missense change in the USH2A gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The P3524H amino acid substitution is non-conservative with a neutral and non-polar residue (Pro) being replaced by a positively charged and polar residue (His). 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 usherin protein and belongs to the fibronectin type II-20 domain. According to the Human Gene Mutation Database (HGMD), other missense variants (D3515G, W3521R, G3529S) have been reported in nearby residues in association with Usher syndrome type 2. The P3524H variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Therefore, the P3524H missense change is a strong candidate for a pathogenic variant, although the possibility that it is a benign polymorphism cannot be excluded.

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