Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610578 | SCV000711232 | uncertain significance | not specified | 2016-10-06 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Glu4209Lys va riant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome. It has been identified in 12/66294 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 141943290); however, this frequency is not high enough to rule out a pathogenic role. The glutamic acid residue (Glu) at position 4209 is not conserved across species, with two mammals (prairie vole and golden hamster) having a lysine (Lys ) at this position. Additional computational predictions suggest that this varia nt may not impact the protein. In summary, while the clinical significance of th is variant is uncertain, these data suggest that it is more likely to be benign. |
Invitae | RCV001454312 | SCV001658035 | likely benign | not provided | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001454312 | SCV002584208 | uncertain significance | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002532735 | SCV003697703 | uncertain significance | Inborn genetic diseases | 2022-04-25 | criteria provided, single submitter | clinical testing | The c.12625G>A (p.E4209K) alteration is located in exon 63 (coding exon 62) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 12625, causing the glutamic acid (E) at amino acid position 4209 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001272950 | SCV001455401 | uncertain significance | Usher syndrome type 2A | 2019-11-11 | no assertion criteria provided | clinical testing |