ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002837936 SCV003206875 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-06-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 663 of the AMPD2 protein (p.Thr663Ser).

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