ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val)

gnomAD frequency: 0.00004  dbSNP: rs145441666
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765372 SCV001998039 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540370 SCV003518788 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 301 of the AMPD2 protein (p.Ala301Val). This variant is present in population databases (rs145441666, gnomAD 0.01%). 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: 1309203). 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 valine 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 RCV003346679 SCV004050556 uncertain significance Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346680 SCV004050558 uncertain significance Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing

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