ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe)

gnomAD frequency: 0.00025  dbSNP: rs200717164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001868286 SCV002203404 uncertain significance Muscle AMP deaminase deficiency 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 631 of the AMPD1 protein (p.Leu631Phe). This variant is present in population databases (rs200717164, gnomAD 0.2%). 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: 559257). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV000676653 SCV002817506 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001868286 SCV003826250 uncertain significance Muscle AMP deaminase deficiency 2019-04-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676653 SCV000802446 uncertain significance not provided 2016-03-07 no assertion criteria provided clinical testing

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