ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12067-1G>C

dbSNP: rs397517977
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041711 SCV000065407 pathogenic Rare genetic deafness 2010-10-05 criteria provided, single submitter clinical testing The 12067-1G>C variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. The 12067-1G>C variant is predicted to caus e abnormal splicing because the nucleotide substitution occurs in the invariant region of the splice consensus sequence. In summary, this variant meets our crit eria to be classified as pathogenic.
Counsyl RCV000670110 SCV000794926 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852857 SCV002182842 pathogenic not provided 2021-10-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 48389). Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 18452394). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 61 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).
Genome-Nilou Lab RCV003445118 SCV004173917 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445117 SCV004173918 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003445118 SCV004208190 pathogenic Retinitis pigmentosa 39 2023-10-11 criteria provided, single submitter clinical testing

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