ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.665C>T (p.Ala222Val)

gnomAD frequency: 0.00003  dbSNP: rs369685849
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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 RCV001896608 SCV002172035 uncertain significance Muscle AMP deaminase deficiency 2022-05-24 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 255 of the AMPD1 protein (p.Ala255Val). This variant is present in population databases (rs369685849, gnomAD 0.01%). 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 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.

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