ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.56C>G (p.Ser19Cys)

dbSNP: rs1555903913
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521253 SCV000620960 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing The S19C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S19C variant is not observed in large population cohorts (Lek et al., 2016). This 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved.

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