ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) (rs869312182)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV001171538 SCV001334323 likely pathogenic Usher syndrome 2020-05-26 reviewed by expert panel curation The c.6446C>A (p.Pro2149Gln) variant in USH2A was absent from gnomAD (PM2). It has been detected in one patient with Usher syndrome and one patient with isolated Retinitis pigmentosa, both of whom carried another suspected pathogenic variant in trans (PM3_Strong; PP4; PMIDs: 26872967, 29074561, 28041643; ClinVar ID: 2356). In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome based on the ACMG/AMP criteria applied as specified by the Hearing Loss Expert Panel: PM2, PM3_Strong, PP4.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000210323 SCV000259095 likely pathogenic Usher syndrome, type 2A 2015-08-28 no assertion criteria provided clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225553 SCV000282656 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505157 SCV000598820 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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