ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.147_148insCGGACA (p.Ile49_Ser50insArgThr)

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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 RCV002632271 SCV003501157 uncertain significance Muscle AMP deaminase deficiency 2022-06-04 criteria provided, single submitter clinical testing This variant, c.246_247insCGGACA, results in the insertion of 2 amino acid(s) of the AMPD1 protein (p.Ile82_Ser83insArgThr), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760986384, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. 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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