ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)

dbSNP: rs782701925
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093002 SCV001249768 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001245742 SCV001419047 uncertain significance Adrenoleukodystrophy 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 70 of the ABCD1 protein (p.Val70Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001245742 SCV002045781 uncertain significance Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV001093002 SCV002504393 likely benign not provided 2019-03-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Revvity Omics, Revvity RCV001093002 SCV003824421 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001245742 SCV002084594 uncertain significance Adrenoleukodystrophy 2020-09-11 no assertion criteria provided clinical testing

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