ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)

dbSNP: rs1569540704
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761214 SCV000891167 likely pathogenic Adrenoleukodystrophy 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV000761214 SCV001373941 pathogenic Adrenoleukodystrophy 2022-12-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 623114). This missense change has been observed in individual(s) with clinical and/or biochemical features of adrenoleukodystrophy (PMID: 21700483, 30658899, 31074578; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 198 of the ABCD1 protein (p.Thr198Met). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCD1 protein function. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Thr198 amino acid residue in ABCD1. Other variant(s) that disrupt this residue have been observed in individuals with ABCD1-related conditions (PMID: 11748843), which suggests that this may be a clinically significant amino acid residue.
Genome-Nilou Lab RCV000761214 SCV002045810 pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003141740 SCV003822544 likely pathogenic not provided 2022-02-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000761214 SCV004206410 pathogenic Adrenoleukodystrophy 2022-04-30 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000761214 SCV001469223 pathogenic Adrenoleukodystrophy 2020-06-07 no assertion criteria provided clinical testing

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