ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.216C>T (p.Ser72=)

gnomAD frequency: 0.00001  dbSNP: rs761492981
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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 RCV000877469 SCV004176823 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2023-12-12 reviewed by expert panel curation The c.216C>T (p.Ser72=) variant (NM_000018.4) is a synonymous (silent) variant. BP7 was not applied because the nucleotide is conserved, as shown by PhastCons. The results from 3 in silico splicing predictors (SpliceAI, NNsplice, MaxEntScan) support that this variant does not affect splicing (BP4). The highest population minor allele frequency in gnomAD v2.1.1 is 0.0001471 in the European (non-Finnish) population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting). In summary, this variant meets the criteria to be classified as a variant of uncertain significance 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: PM2, BP4 (ACADVL VCEP specifications version 1; approved November 9, 2021).
Invitae RCV000877469 SCV001020209 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000877469 SCV001281574 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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