ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1210G>C (p.Ala404Pro)

gnomAD frequency: 0.00001  dbSNP: rs762722076
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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 RCV001903689 SCV002170844 uncertain significance Muscle AMP deaminase deficiency 2021-12-02 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 437 of the AMPD1 protein (p.Ala437Pro). 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. 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.

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