Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000670034 | SCV000794845 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-10-17 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003558503 | SCV004294142 | uncertain significance | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1234 of the MYO7A protein (p.Thr1234Ser). This variant is present in population databases (rs775908821, gnomAD 0.04%). This missense change has been observed in individual(s) with autosomal dominant deafness (PMID: 25373420, 27911912, 35453549). ClinVar contains an entry for this variant (Variation ID: 554407). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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. |