Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375099 | SCV001571964 | uncertain significance | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Moderate, PP3_Supporting |
Invitae | RCV002550948 | SCV002979082 | uncertain significance | not provided | 2022-07-14 | criteria provided, single submitter | clinical testing | 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. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1064896). This variant has not been reported in the literature in individuals affected with POLR1C-related conditions. This variant is present in population databases (rs767435882, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 203 of the POLR1C protein (p.Arg203Gln). |