Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000614677 | SCV000711164 | uncertain significance | not specified | 2016-11-23 | criteria provided, single submitter | clinical testing | The p.Gly1881Arg variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 1/457 54 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs373886432); however, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis suggest that the p.Gly1881Arg variant may impact the protein, though th is information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly1881Arg variant is uncertain. |
Invitae | RCV001351961 | SCV001546478 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 1881 of the MYO7A protein (p.Gly1881Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs373886432, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 504649). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Fulgent Genetics, |
RCV002483670 | SCV002779541 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272815 | SCV001455181 | uncertain significance | Usher syndrome type 1B | 2020-04-17 | no assertion criteria provided | clinical testing |