ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) (rs387906497)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012069 SCV000955206 pathogenic Adrenoleukodystrophy 2018-11-06 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ABCD1 mRNA. The next in-frame methionine is located at codon 67. 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 been observed to segregate with X-linked adrenoleukodystrophy in a family (PMID: 11739809). This variant is also known as _x0006_delta26, 369–394 deletion in the literature. This variant disrupts the initiator methionine in ABCD1. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 18206987, 18306728, 22176151, 27423567), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012069 SCV000032303 pathogenic Adrenoleukodystrophy 2001-12-11 no assertion criteria provided literature only

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