Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041751 | SCV000065447 | uncertain significance | not specified | 2011-03-01 | criteria provided, single submitter | clinical testing | The Glu4701Lys variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, homology, PolyPhen, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. However, it should be noted that frog and zebra fish have a lysine at this position. In addition, this lab has only sequenced th e USH2A in 259 individuals such that the full spectrum of benign variation has n ot yet been defined for this gene, increasing the possibility that this may be a benign variant. In summary, the clinical significance of this variant cannot be determined with certainty at this time; however based upon the arguments descri bed above, we would lean towards a more likely benign role. |
Invitae | RCV001245454 | SCV001418744 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV001376435 | SCV001573573 | uncertain significance | Retinitis pigmentosa 39 | 2021-04-08 | criteria provided, single submitter | research | The USH2A c.14101G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance. |
Natera, |
RCV001272937 | SCV001455388 | uncertain significance | Usher syndrome type 2A | 2020-01-17 | no assertion criteria provided | clinical testing |