Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001802604 | SCV002049031 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-10-18 | criteria provided, single submitter | clinical testing | The ACADVL c.62G>A; p.Ser21Asn variant (rs753922855), to our knowledge, is not reported in the medical literature or gene specific databases, but has been observed by ARUP in an individual affected with VLCAD deficiency with an additional pathogenic ACADVL variant. This variant is found in the Latino population with an allele frequency of 0.009% (3/33808 alleles) in the Genome Aggregation Database. This is a missense variant located at the last nucleotide on exon 1, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical donor splice site. Based on available information, this variant is considered to be likely pathogenic. |