Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |