Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004259103 | SCV003885376 | uncertain significance | not specified | 2023-02-28 | criteria provided, single submitter | clinical testing | The c.2059C>T (p.R687W) alteration is located in exon 18 (coding exon 18) of the YME1L1 gene. This alteration results from a C to T substitution at nucleotide position 2059, causing the arginine (R) at amino acid position 687 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV005061063 | SCV005691349 | uncertain significance | not provided | 2024-03-03 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 687 of the YME1L1 protein (p.Arg687Trp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with YME1L1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2468730). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Institute of Human Genetics, |
RCV004818295 | SCV005073251 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |