ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) (rs128624221)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000012054 SCV001164369 likely pathogenic Adrenoleukodystrophy 2018-12-03 criteria provided, single submitter research The hemizygous p.Arg464Ter variant in ABCD1 was identified by our study in one individual with adrenoleukodystrophy. The p.Arg464Ter variant in ABCD1 has been reported in 1 individual with adrenoleukodystrophy (PMID: 8040304), and was absent from large population studies. This variant has also been reported pathogenic by OMIM in ClinVar (Variation ID: 11302). This nonsense variant leads to a premature termination codon at position 464, which is predicted to lead to a truncated or absent protein. Loss of function of the ABCD1 gene is an established disease mechanism in autosomal recessive adrenoleukodystrophy. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PVS1 (Richards 2015).
OMIM RCV000012054 SCV000032288 pathogenic Adrenoleukodystrophy 1994-08-01 no assertion criteria provided literature only

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