ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.189A>G (p.Lys63=)

dbSNP: rs727503790
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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 RCV001405077 SCV004805219 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-02-27 reviewed by expert panel curation The NM_000018.4 c.189A>G (p.Lys63=) variant in ACADVL is a synonymous (silent) variant that is not predicted by SpliceSiteFinder, MaxEntScn and NNSplice to impact splicing. In addition, it occurs at a nucleotide that is weakly conserved as shown by phyloP (BP4, BP7). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, although this variant meets PM2_Supporting, 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 (VCEP specifications v2.0, approved on 09/16/2021).
Eurofins Ntd Llc (ga) RCV000152734 SCV000202121 uncertain significance not provided 2014-02-03 criteria provided, single submitter clinical testing
Invitae RCV001405077 SCV001606993 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-01-07 criteria provided, single submitter clinical testing

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