ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.563G>A (p.Arg188His)

gnomAD frequency: 0.00001  dbSNP: rs761937276
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432475 SCV000536387 likely pathogenic not provided 2023-06-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 28492532, 31164858)
Invitae RCV000473273 SCV000547388 uncertain significance Adenylosuccinate lyase deficiency 2022-12-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 393034). This missense change has been observed in individual(s) with West syndrome (PMID: 31164858). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs761937276, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 188 of the ADSL protein (p.Arg188His).

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