Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667139 | SCV000791544 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-05-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001056892 | SCV001221357 | uncertain significance | not provided | 2022-08-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1641 of the MYO7A protein (p.Glu1641Lys). This variant is present in population databases (rs767975012, gnomAD 0.02%). This missense change has been observed in individual(s) with hearing loss (PMID: 23237960, 33924653). ClinVar contains an entry for this variant (Variation ID: 551961). 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. 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. |
Gene |
RCV001056892 | SCV002099590 | uncertain significance | not provided | 2022-02-22 | criteria provided, single submitter | clinical testing | Reported in unrelated patients with hearing loss in published literature (Miyagawa et al., 2013; Santos-Cortez et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23967202, 23237960, 33924653) |
Natera, |
RCV001835081 | SCV002088475 | uncertain significance | Usher syndrome type 1B | 2020-02-17 | no assertion criteria provided | clinical testing |