Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Research Center, |
RCV001353206 | SCV001442497 | likely pathogenic | Sensorineural hearing loss disorder | 2020-09-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001880079 | SCV002136797 | uncertain significance | not provided | 2021-08-19 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs746982385, ExAC 0.01%). This variant has been observed in individuals with renal tubular acidosis (PMID: 12414817, 28233610). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This variant, c.710_712del, results in the deletion of 1 amino acid(s) of the ATP6V0A4 protein (p.Lys237del), but otherwise preserves the integrity of the reading frame. |