ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.5C>T (p.Ala2Val) (rs143083947)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186704 SCV000240270 pathogenic not provided 2012-04-09 criteria provided, single submitter clinical testing p.Ala2Val (GCG>GTG): c.5 C>T in exon 1 of the ADSL gene. The Ala2Val mutation has been reported previously, together with mutation Ser395Arg, in a patient with neonatal myoclonic seizures, developmental delay, and hypotonia due to adenylosuccinate lyase (ADSL) deficiency (Marie et al., 1999; van den Bergh et al., 1998). The Ala2Val mutation alters a highly conserved position in the ADSL protein, and in vitro functional studies indicate that this mutation reduces ADSL enzyme activity (Race et al., 2000). The variant is found in INFANT-EPI panel(s).

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