ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)

dbSNP: rs794727112
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000174653 SCV000225988 uncertain significance not provided 2014-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000410559 SCV000487238 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2016-11-02 criteria provided, single submitter clinical testing
Mendelics RCV000410559 SCV001140231 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000410559 SCV001364924 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1367G>A (NP_000009.1:p.Arg456His) [GRCH38: NC_000017.11:g.7224002G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 9973285; 17206456. This variant meets the following evidence codes reported in the ACMG guidelines: PS1, PS3
Invitae RCV000410559 SCV001380894 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2021-09-01 criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000410559 SCV002060283 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-11-11 criteria provided, single submitter clinical testing NM_000018.3(ACADVL):c.1367G>A(R456H) is a missense variant classified as a variant of uncertain significance in the context of very-long-chain acyl-CoA dehydrogenase deficiency. R456H has been observed in cases with relevant disease (PMID: 26182500, 29268767, 9973285, Schymik_2007_(no PMID; dissertation), 17206456). Functional assessments of this variant are not available in the literature. R456H has not been observed in population frequency databases. In summary, there is insufficient evidence to classify NM_000018.3(ACADVL):c.1367G>A(R456H) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

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