ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn)

gnomAD frequency: 0.00001  dbSNP: rs866261066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316598 SCV001507228 uncertain significance Muscle AMP deaminase deficiency 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 47 of the AMPD1 protein (p.Asp47Asn). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017444). 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. 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.
Revvity Omics, Revvity RCV001316598 SCV003826259 uncertain significance Muscle AMP deaminase deficiency 2019-05-09 criteria provided, single submitter clinical testing

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