ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn)

gnomAD frequency: 0.00006  dbSNP: rs772974251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484518 SCV000573369 uncertain significance not provided 2022-08-11 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 RCV001302302 SCV001491503 uncertain significance Adenylosuccinate lyase deficiency 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 339 of the ADSL protein (p.Ile339Asn). This variant is present in population databases (rs772974251, gnomAD 0.006%). 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: 423648). 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.
Ambry Genetics RCV002526952 SCV003740355 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.1016T>A (p.I339N) alteration is located in exon 10 (coding exon 10) of the ADSL gene. This alteration results from a T to A substitution at nucleotide position 1016, causing the isoleucine (I) at amino acid position 339 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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