ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)

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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 RCV002776588 SCV003200803 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2023-08-17 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 329 of the AMPD2 protein (p.Val329Met). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1992528).

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