Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001318376 | SCV001509075 | uncertain significance | not provided | 2022-03-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1696 of the MYO7A protein (p.Arg1696Trp). 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 variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1019001). 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. |
| Foundation for Research in Genetics and Endocrinology, |
RCV002275351 | SCV002562743 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 11 | 2021-07-19 | criteria provided, single submitter | clinical testing | A heterozygous missense variation in exon 37 of the MYO7A gene that results in the amino acid substitution of Tryptophan for Arginine at codon 1696 was detected. The observed variant c.5086C>T (p.Arg1696Trp) has not been reported in the 1000 genomes and gnomAD database. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. In summary, the variant meets our criteria to be classified as a variant of uncertain significance |
| Gene |
RCV001318376 | SCV003837436 | uncertain significance | not provided | 2023-02-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Natera, |
RCV001830313 | SCV002088485 | uncertain significance | Usher syndrome type 1B | 2020-08-18 | no assertion criteria provided | clinical testing |