Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489106 | SCV000576961 | uncertain significance | not provided | 2017-04-13 | criteria provided, single submitter | clinical testing | The P1846A variant in the MYO7A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1846A variant is observed in 1/3890 (0.025%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The P1846A variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in the same residue, P1846H, has been reported in an individual with Usher syndrome type 1 who was also heterozygous for a frameshift deletion, however, familial segregation information was not included (Aparisi et al., 2014). We interpret P1846A as a variant of uncertain significance. |
Natera, |
RCV001834585 | SCV002088508 | uncertain significance | Usher syndrome type 1B | 2019-11-11 | no assertion criteria provided | clinical testing |