ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)

gnomAD frequency: 0.00001  dbSNP: rs776868175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806390 SCV002053951 likely pathogenic Pontocerebellar hypoplasia type 9 criteria provided, single submitter research
Invitae RCV002542417 SCV003514985 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-01-03 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. This variant disrupts the p.Arg378 amino acid residue in AMPD2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29463858; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with pontocerebellar hypoplasia (PMID: 29463858). This variant is present in population databases (rs776868175, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 378 of the AMPD2 protein (p.Arg378Trp).

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