Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV002227347 | SCV002506211 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2022-01-14 | criteria provided, single submitter | clinical testing | The ACADVL c.351C>G; p.Asn117Lys variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The asparagine at codon 117 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.648). However, given the lack of clinical and functional data, the significance of the p.Asn117Lys variant is uncertain at this time. |