Submissions for variant NM_000018.4(ACADVL):c.278-31_278-18del

dbSNP: rs2071164779

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV002226149	SCV002504581	likely benign	not provided	2020-02-13	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003093891	SCV003284893	likely benign	Very long chain acyl-CoA dehydrogenase deficiency	2022-08-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004700695	SCV005204703	likely benign	not specified	2024-06-18	criteria provided, single submitter	clinical testing	Variant summary: ACADVL c.278-31_278-18del14 alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251378 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.278-31_278-18del14 has been reported in the literature in a newborn screening case that was positive for Very Long Chain Acyl-CoA Dehydrogenase Deficiency without strong evidence of causality (Wang_2019). This report does not provide unequivocal conclusions about association of the variant with Very Long Chain Acyl-CoA Dehydrogenase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 31737040). ClinVar contains an entry for this variant (Variation ID: 1678835). Based on the evidence outlined above, the variant was classified as likely benign.