ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.638G>T (p.Gly213Val)

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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 RCV002638830 SCV002971219 uncertain significance Muscle AMP deaminase deficiency 2022-01-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 246 of the AMPD1 protein (p.Gly246Val). This variant is present in population databases (rs750771493, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. 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 C15"). 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.

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