ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) (rs373458753)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727198 SCV000343734 pathogenic not provided 2016-07-26 criteria provided, single submitter clinical testing
Invitae RCV000293106 SCV000826390 pathogenic Adenylosuccinate lyase deficiency 2018-03-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 303 of the ADSL protein (p.Arg303Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs373458753, ExAC 0.04%). This variant has been observed in the homozygous state in two individuals with elevated succinyladenosine in urine or cerebral spinal fluid, findings that are highly specific for adenylosuccinate lyase deficiency (Pubmed: 10958654, 10090474, 3234432). ClinVar contains an entry for this variant (Variation ID: 289379). Experimental studies have shown that this missense change results in a protein with significantly reduced enzymatic activity (PMID: 23714113, 22812634, 20127976, 10958654). For these reasons, this variant has been classified as Pathogenic.

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