Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173951 | SCV000225142 | likely pathogenic | not provided | 2012-10-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513812 | SCV003271951 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2021-12-26 | criteria provided, single submitter | clinical testing | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 92271). This missense change has been observed in individual(s) with a positive newborn screening result for ACADVL-related disease (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 369 of the ACADVL protein (p.Phe369Ser). |