ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.482A>G (p.Gln161Arg)

gnomAD frequency: 0.00001  dbSNP: rs8192457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186708 SCV000240274 uncertain significance not provided 2022-01-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001308467 SCV001497919 uncertain significance Adenylosuccinate lyase deficiency 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 161 of the ADSL protein (p.Gln161Arg). This variant is present in population databases (rs8192457, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ADSL-related conditions. ClinVar contains an entry for this variant (Variation ID: 204812). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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