ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.507T>G (p.Ile169Met)

dbSNP: rs542684385
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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 RCV000143851 SCV000109582 uncertain significance Autism criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV001854365 SCV002196458 uncertain significance Muscle AMP deaminase deficiency 2021-09-03 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 91877). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs542684385, ExAC 0.01%). This sequence change replaces isoleucine with methionine at codon 202 of the AMPD1 protein (p.Ile202Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine.

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