ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.520T>C (p.Trp174Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002615124 SCV003496126 uncertain significance Muscle AMP deaminase deficiency 2022-04-13 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 207 of the AMPD1 protein (p.Trp207Arg). This variant is present in population databases (rs370236380, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. 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 tolerated. 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.
Ambry Genetics RCV004068879 SCV004894956 uncertain significance Inborn genetic diseases 2024-03-11 criteria provided, single submitter clinical testing The c.619T>C (p.W207R) alteration is located in exon 5 (coding exon 5) of the AMPD1 gene. This alteration results from a T to C substitution at nucleotide position 619, causing the tryptophan (W) at amino acid position 207 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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