ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14835del (p.Val4946fs)

dbSNP: rs2102636076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002250929 SCV002521147 pathogenic Usher syndrome type 2A 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with USH2A related disorder (PMID: 31674169 / 3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV004572089 SCV005055738 pathogenic Retinitis pigmentosa 39 2024-01-19 criteria provided, single submitter clinical testing

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