ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.579C>T (p.Gly193=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen RCV003164886 SCV003853582 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2023-02-13 reviewed by expert panel curation The c.579C>T (p.Gly193=) variant is a synonymous (silent) variant that is not predicted by Splice AI, MaxEntScn or NNSplice to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by phyloP (BP4, BP7). To our knowledge, this variant is not reported in the medical literature. This variant is absent from gnomAD v2.1.1; 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV003164886 SCV004384269 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2023-01-28 criteria provided, single submitter clinical testing

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