ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs)

dbSNP: rs1569541093
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755766 SCV000883321 pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing The ABCD1 c.1621_1628del; p.Tyr541fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting 8 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic.

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