ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr)

gnomAD frequency: 0.00003  dbSNP: rs149171366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824136 SCV000965021 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-03-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 497 of the AMPD2 protein (p.Ile497Thr). This variant is present in population databases (rs149171366, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 665782). 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"). 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 RCV002536013 SCV003710188 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.1490T>C (p.I497T) alteration is located in exon 11 (coding exon 11) of the AMPD2 gene. This alteration results from a T to C substitution at nucleotide position 1490, causing the isoleucine (I) at amino acid position 497 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003344080 SCV004050583 uncertain significance Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003344081 SCV004050584 uncertain significance Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing

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