ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)

gnomAD frequency: 0.00003  dbSNP: rs28941471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186674 SCV000240240 likely pathogenic not provided 2022-03-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate a damaging effect as this variant decreases enzyme stability (Kmoch et al., 2000; Zikanova et al., 2010); This variant is associated with the following publications: (PMID: 10888601, 10090474, 20127976)
Invitae RCV000002569 SCV000960462 pathogenic Adenylosuccinate lyase deficiency 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 190 of the ADSL protein (p.Arg190Gln). This variant is present in population databases (rs28941471, gnomAD 0.03%). This missense change has been observed in individual(s) with deficiency of adenylosuccinate lyase (PMID: 10090474, 10888601). ClinVar contains an entry for this variant (Variation ID: 2465). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ADSL protein function with a negative predictive value of 80%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on ADSL function (PMID: 20127976, 22180458). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002569 SCV000022727 pathogenic Adenylosuccinate lyase deficiency 1999-01-01 no assertion criteria provided literature only

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