ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala)

dbSNP: rs1569540711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727570 SCV000854808 likely pathogenic not provided 2018-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753011 SCV005359940 uncertain significance ABCD1-related disorder 2024-05-09 no assertion criteria provided clinical testing The ABCD1 c.662A>C variant is predicted to result in the amino acid substitution p.Asp221Ala. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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