Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001445 | SCV001158683 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2018-08-27 | criteria provided, single submitter | clinical testing | The ACADVL c.614T>C; p.Leu205Pro variant, also known as p.L165P, is reported in the literature in the compound heterozygous state with another variant of unknown significance in at least one individual affected with very-long-chain acyl-CoA dehydrogenase deficiency (Schymik 2006). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The leucine at codon 205 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Leu205Pro variant is uncertain at this time. References: Schymik I et al. Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr. 2006 Jul;149(1):128-30. |