ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7451+3G>A

gnomAD frequency: 0.00003  dbSNP: rs397518030
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Total submissions: 4
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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 RCV000041908 SCV000065604 likely benign not specified 2012-02-09 criteria provided, single submitter clinical testing 7451+3G>A in intron 39 USH2A: This variant has not been reported in the literatu re nor previously identified by our laboratory. However, splice site prediction tools do not suggest an impact to splicing. Therefore, this variant is more like ly benign.
Counsyl RCV000667778 SCV000792282 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-06-13 criteria provided, single submitter clinical testing
Mendelics RCV000986529 SCV001135545 benign Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002513605 SCV003519523 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 39 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 (rs397518030, gnomAD 0.06%). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 24938718). ClinVar contains an entry for this variant (Variation ID: 48582). 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.

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