ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2167+4C>T

gnomAD frequency: 0.00001  dbSNP: rs200638562
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Total submissions: 7
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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 RCV000041808 SCV000065504 uncertain significance not specified 2011-06-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 2167+4C>T varia nt in USH2A has not been reported in the literature nor previously identified by our laboratory. This variant is located in the 5' splice region but does not af fect the invariant +1 and +2 positions. Although position +4 is part of the spli ce site region, the reference sequence was already divergent from consensus (nor mally an A at this position) and therefore this variant is less likely to disrup t splicing. In summary, the clinical significance of this variant cannot be dete rmined with certainty at this time; however, given that there is currently no ev idence to suggest this variant is pathogenic, we would lean towards a more likel y benign role.
Counsyl RCV000666387 SCV000790670 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513601 SCV003472277 uncertain significance not provided 2022-03-18 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200638562, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 48485). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV003445121 SCV004172187 uncertain significance Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001275023 SCV004172188 uncertain significance Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041808 SCV005887102 uncertain significance not specified 2025-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275023 SCV001459771 uncertain significance Usher syndrome type 2A 2020-03-11 no assertion criteria provided clinical testing

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