ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) (rs111033533)

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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, RCV000787983 SCV000927006 likely benign Usher syndrome 2019-03-25 reviewed by expert panel curation The filtering allele frequency of the p.Ala2774Thr variant in the USH2A gene is 0.13% for European Finnish chromosome by gnomAD (35/25118), and one homozygous European (Finnish) individual and one homozygous European (non-Finnish) individual (BS1_Supporting). The REVEL computational prediction analysis tool predicted a score of 0.052, which meets the threshold to apply BP4. In summary, the HL EP classified this variant as likely benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BS1_Supporting, BP4.
Counsyl RCV000664992 SCV000789042 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2016-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041923 SCV000065619 likely benign not specified 2010-02-17 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504908 SCV000598833 uncertain significance Retinal dystrophy 2015-01-01 no assertion criteria provided research

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