ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys)

gnomAD frequency: 0.00002  dbSNP: rs777802711
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660396 SCV000782476 uncertain significance Muscle AMP deaminase deficiency 2016-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660396 SCV003456955 uncertain significance Muscle AMP deaminase deficiency 2022-06-13 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 547862). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs777802711, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 761 of the AMPD1 protein (p.Arg761Cys).
Revvity Omics, Revvity RCV000660396 SCV003826227 uncertain significance Muscle AMP deaminase deficiency 2019-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985060 SCV005609800 uncertain significance Inborn genetic diseases 2024-06-26 criteria provided, single submitter clinical testing The c.2281C>T (p.R761C) alteration is located in exon 16 (coding exon 16) of the AMPD1 gene. This alteration results from a C to T substitution at nucleotide position 2281, causing the arginine (R) at amino acid position 761 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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