ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1385T>C (p.Ile462Thr)

gnomAD frequency: 0.00001  dbSNP: rs781739971
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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 RCV002035590 SCV002278749 uncertain significance Muscle AMP deaminase deficiency 2021-06-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 495 of the AMPD1 protein (p.Ile495Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with AMPD1-related conditions. This variant is present in population databases (rs781739971, ExAC 0.003%).

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