ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.146C>A (p.Pro49His)

dbSNP: rs1557052213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522830 SCV000621299 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing The P49H variant in the ABCD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P49H variant is not observed in large population cohorts (Lek et al., 2016). The P49H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret P49H as a variant of uncertain significance.

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