ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)

dbSNP: rs577938494
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376369 SCV001573486 uncertain significance Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.12700A>C variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Baylor Genetics RCV001376369 SCV005055735 likely pathogenic Retinitis pigmentosa 39 2024-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221320 SCV000271290 likely pathogenic Usher syndrome; Rare genetic deafness 2015-11-07 flagged submission clinical testing The p.Thr4234Pro variant in USH2A has been reported as a homozygous variant in o ne individual with clinical features of Usher syndrome type 2 (Lenarduzzi 2015), and was absent from large race-matched population studies. Computational predic tion tools and conservation analyses of the predicted amino acid change at this position do not provide strong support for or against an impact to the protein. However, the nucleotide base affected by the variant (the adenosine (A) base at c.12700) is well conserved across species and splice prediction tools suggest th at the variant may impact splicing; though this data is not predictive enough to determine pathogenicity. In summary, although additional studies are required t o fully establish its clinical significance, this variant is likely pathogenic.

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