ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.775G>T (p.Gly259Trp)

dbSNP: rs796052244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186677 SCV000240243 likely pathogenic not provided 2018-10-26 criteria provided, single submitter clinical testing The G259W variant in the ADSL gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G259W variant is not observed in large population cohorts (Lek et al., 2016). The G259W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret G259W as a likely pathogenic variant.

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