ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met)

gnomAD frequency: 0.00005  dbSNP: rs374249741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde RCV000516084 SCV000574505 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001851283 SCV002137183 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-06-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 448 of the AMPD2 protein (p.Val448Met). This variant is present in population databases (rs374249741, gnomAD 0.03%). This missense change has been observed in individual(s) with hereditary spastic paraplegia (PMID: 28832565). ClinVar contains an entry for this variant (Variation ID: 424691). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome-Nilou Lab RCV003343861 SCV004050572 uncertain significance Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343862 SCV004050573 uncertain significance Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing

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