ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys)

gnomAD frequency: 0.00005  dbSNP: rs587779370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
State Key Lab of Medical Genetics, Central South University RCV000143845 SCV000109576 uncertain significance Autism criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV000701904 SCV000830727 uncertain significance Muscle AMP deaminase deficiency 2021-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 500 of the AMPD1 protein (p.Arg500Cys). This variant is present in population databases (rs587779370, gnomAD 0.04%). 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: 91871). 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. 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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