ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)

dbSNP: rs782311214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227000 SCV001399334 uncertain significance Adrenoleukodystrophy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 693 of the ABCD1 protein (p.Thr693Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This missense change has been observed in individual(s) with adrenoleukodystrophy (PMID: 11748843). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001664767 SCV001875316 uncertain significance not provided 2021-03-09 criteria provided, single submitter clinical testing Reported in database of X-ALD associated variants with no further clinical information (Kemp et al., 2001); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 11748843)
Genome-Nilou Lab RCV001227000 SCV002045799 uncertain significance Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001227000 SCV002084662 uncertain significance Adrenoleukodystrophy 2020-10-15 no assertion criteria provided clinical testing

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