ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp) (rs796052247)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186689 SCV000240255 pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing The E376D pathogenic variant in the ADSL gene has been reported previously in a boy with deficiency who was compound heterozygous for the E376D variant and another missense variant. Clinical features included an abnormal fetal heart rate, low birth weight, respiratory distress, severe hypotonia, cerebral atrophy, acquired microcephaly, and refractory seizures, leading to death at approximately 2 months of age (Mouchegh et al., 2007). Functional characterization of the E376D variant indicated decreased stability of the protein's tertiary and quaternary structure leading to low residual enzyme activity (Zikanova et al., 2010). We interpret E376D as a pathogenic variant.

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