Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221469 | SCV000272158 | uncertain significance | not specified | 2015-05-28 | criteria provided, single submitter | clinical testing | The p.Arg2031Gln variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/18592 Europe an chromosomes and 1/2270 East Asian chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org). Computational prediction tools do n ot provide strong support for or against an impact to the protein. In summary, t he clinical significance of the p.Arg2031Gln variant is uncertain. |
Counsyl | RCV000664976 | SCV000789022 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2016-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519643 | SCV003454265 | uncertain significance | not provided | 2023-11-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2031 of the MYO7A protein (p.Arg2031Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with deafness (PMID: 30733538). ClinVar contains an entry for this variant (Variation ID: 229010). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYO7A protein function with a negative predictive value of 95%. 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, |
RCV001275531 | SCV001460746 | uncertain significance | Usher syndrome type 1B | 2020-09-16 | no assertion criteria provided | clinical testing |