Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219294 | SCV000272873 | uncertain significance | not specified | 2016-03-01 | criteria provided, single submitter | clinical testing | The p.Asn806Lys variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome or in large population studies. Computation al prediction tools and conservation analyses suggest that the p.Asn806Lys varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. In summary, the clinical significance of the p.Asn806Lys variant is uncertain. |
Counsyl | RCV000670409 | SCV000795259 | uncertain significance | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2017-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001360961 | SCV001556917 | uncertain significance | not provided | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with lysine at codon 506 of the USH1C protein (p.Asn506Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 229603). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Natera, |
RCV001828087 | SCV002081295 | uncertain significance | Usher syndrome type 1C | 2021-08-11 | no assertion criteria provided | clinical testing |