ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter)

gnomAD frequency: 0.00001  dbSNP: rs397518046
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216340 SCV001388132 pathogenic not provided 2023-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 48621). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is present in population databases (rs397518046, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln3102*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).
DBGen Ocular Genomics RCV001588862 SCV001816028 pathogenic Retinitis pigmentosa 39 2021-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001588862 SCV004182716 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041947 SCV000065643 pathogenic Rare genetic deafness 2013-03-11 no assertion criteria provided clinical testing The Gln3102X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. This nonsense variant leads to a premature te rmination codon at position 3102, which is predicted to lead to a truncated or a bsent protein. In summary, this variant meets our criteria to be classified as p athogenic (http://pcpgm.partners.org/LMM).

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