ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.509A>T (p.Asp170Val)

gnomAD frequency: 0.00001  dbSNP: rs572362619
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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 RCV000143852 SCV000109583 uncertain significance Autism criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV001854366 SCV002202877 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 91878). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs572362619, ExAC 0.01%). This sequence change replaces aspartic acid with valine at codon 203 of the AMPD1 protein (p.Asp203Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine.

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