ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.822C>T (p.Ala274=)

gnomAD frequency: 0.00002  dbSNP: rs372038260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen RCV001477684 SCV003936887 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2023-06-27 reviewed by expert panel curation The c.822C>T variant is a synonymous (silent) variant (p.Ala274=) that is not predicted by SpliceAI, NNSPLICE, or MaxEntScan to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by 100 vertebrate Basewise Conservation by PhyloP track in the UCSC genome browser (BP4, BP7). This highest population minor allele frequency in gnomAD v2.1.1 is 0.0003185 in the European (Finnish) population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting; however, this is not considered conflicting evidence with BP4 and BP7. In summary, this variant meets the criteria to be classified as likely benign for autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: BP4, BP7 (ACADVL VCEP specifications version 1; approved November 8, 2021)
PreventionGenetics, part of Exact Sciences RCV000249127 SCV000301530 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001477684 SCV001681930 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2023-06-25 criteria provided, single submitter clinical testing

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