ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)

gnomAD frequency: 0.00004  dbSNP: rs536254357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521643 SCV000618602 likely pathogenic not provided 2024-11-18 criteria provided, single submitter clinical testing 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: 37011034, 37842880)
Labcorp Genetics (formerly Invitae), Labcorp RCV001350739 SCV001545155 uncertain significance Adenylosuccinate lyase deficiency 2022-02-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 296 of the ADSL protein (p.Arg296Trp). This variant is present in population databases (rs536254357, gnomAD 0.07%). 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: 450065). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Genetic Services Laboratory, University of Chicago RCV001814999 SCV002061964 uncertain significance not specified 2017-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527600 SCV003606748 uncertain significance Inborn genetic diseases 2022-04-08 criteria provided, single submitter clinical testing The c.886C>T (p.R296W) alteration is located in exon 9 (coding exon 9) of the ADSL gene. This alteration results from a C to T substitution at nucleotide position 886, causing the arginine (R) at amino acid position 296 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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