Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001229420 | SCV001401865 | uncertain significance | not provided | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 109 of the PCYT1A protein (p.Ile109Val). This variant is present in population databases (rs375791987, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PCYT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 956587). 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: "Possibly Damaging"; 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. |
Baylor Genetics | RCV001329355 | SCV001520777 | uncertain significance | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2020-01-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |