ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) (rs397518046)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216340 SCV001388132 pathogenic not provided 2019-06-11 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 48621). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare 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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