ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.843C>G (p.Asp281Glu)

dbSNP: rs145030449
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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 RCV002005218 SCV002263369 uncertain significance Muscle AMP deaminase deficiency 2021-06-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 314 of the AMPD1 protein (p.Asp314Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AMPD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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