ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.592G>C (p.Asp198His)

dbSNP: rs267597934
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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 RCV001890205 SCV002137753 uncertain significance Muscle AMP deaminase deficiency 2021-08-30 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with histidine at codon 231 of the AMPD1 protein (p.Asp231His). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and histidine.

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