ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1687G>C (p.Gly563Arg)

gnomAD frequency: 0.00003  dbSNP: rs370481249
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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 RCV001945860 SCV002202970 uncertain significance Muscle AMP deaminase deficiency 2023-03-21 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1427213). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs370481249, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 596 of the AMPD1 protein (p.Gly596Arg).

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