Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330897 | SCV001522743 | uncertain significance | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 2019-12-09 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ai |
RCV002224063 | SCV002502019 | uncertain significance | not provided | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002224063 | SCV003509493 | uncertain significance | not provided | 2022-07-15 | 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: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1029570). This variant has not been reported in the literature in individuals affected with TRAPPC12-related conditions. This variant is present in population databases (rs758495770, gnomAD 0.05%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 166 of the TRAPPC12 protein (p.Arg166Ser). |