ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs)

dbSNP: rs2091708827
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research RCV001089938 SCV001244935 likely pathogenic Adrenoleukodystrophy 2020-04-27 criteria provided, single submitter clinical testing A heterozygous delins in exon 1 of the ABCD1 gene (ABCD1; OMIM* 300371) (chrX:152991338 CC>T; Depth: 241x) that resulted in frameshift mutation at codon 206 (A206Vfs*10) was detected. The p.A206Vfs*10 variant has not been reported in the 1000 genomes, ExAC, ClinVar, HGMD and ALD Mutation Database.

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