Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375316 | SCV001571938 | uncertain significance | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Moderate,PP3_Supporting |
Fulgent Genetics, |
RCV002488190 | SCV002789669 | uncertain significance | Renal tubular acidosis with progressive nerve deafness | 2021-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002550953 | SCV003519240 | uncertain significance | not provided | 2022-06-26 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 38 of the ATP6V1B1 protein (p.Arg38His). This variant is present in population databases (rs782166295, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ATP6V1B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1065019). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |