ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306581 SCV002602610 likely pathogenic Adrenoleukodystrophy 2022-01-24 criteria provided, single submitter clinical testing NM_000033.3(ABCD1):c.951_952delCA(N318Pfs*82) is expected to be pathogenic in the context of X-linked adrenoleukodystrophy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ABCD1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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