ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val)

gnomAD frequency: 0.00002  dbSNP: rs779901247
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000723372 SCV000330909 likely pathogenic not provided 2015-07-06 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000352142 SCV001365113 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1504C>G (NP_000009.1:p.Leu502Val) [GRCH38: NC_000017.11:g.7224215C>G] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PM5, PP3
Myriad Women's Health, Inc. RCV000352142 SCV002060263 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-11-16 criteria provided, single submitter clinical testing NM_000018.3(ACADVL):c.1504C>G(L502V) is a missense variant classified as a variant of uncertain significance in the context of very long chain acyl-CoA dehydrogenase deficiency. L502V has been observed in cases with relevant disease (PMID: 26385305, 27209629, 23867825, 23418865). Functional assessments of this variant are not available in the literature. L502V has not been observed in population frequency databases. In summary, there is insufficient evidence to classify NM_000018.3(ACADVL):c.1504C>G(L502V) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Counsyl RCV000352142 SCV000799427 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-04-17 no assertion criteria provided clinical testing

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