Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002638361 | SCV003522243 | uncertain significance | Sengers syndrome; Cataract 38 | 2022-01-12 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 376 of the AGK protein (p.Pro376Leu). This variant is present in population databases (rs150893768, gnomAD 0.01%). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AGK-related conditions. |
Ambry Genetics | RCV003377916 | SCV004062724 | uncertain significance | Inborn genetic diseases | 2023-07-25 | criteria provided, single submitter | clinical testing | The c.1127C>T (p.P376L) alteration is located in exon 15 (coding exon 14) of the AGK gene. This alteration results from a C to T substitution at nucleotide position 1127, causing the proline (P) at amino acid position 376 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |