ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys)

gnomAD frequency: 0.00004  dbSNP: rs139003085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001977678 SCV002267261 uncertain significance Muscle AMP deaminase deficiency 2022-11-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs139003085, gnomAD 0.01%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt AMPD1 protein function. ClinVar contains an entry for this variant (Variation ID: 1475942). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 296 of the AMPD1 protein (p.Arg296Cys).
Revvity Omics, Revvity RCV001977678 SCV003826255 uncertain significance Muscle AMP deaminase deficiency 2020-01-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003408038 SCV004107609 uncertain significance AMPD1-related disorder 2023-05-31 criteria provided, single submitter clinical testing The AMPD1 c.886C>T variant is predicted to result in the amino acid substitution p.Arg296Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-115222310-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004042310 SCV004894993 uncertain significance Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing The c.886C>T (p.R296C) alteration is located in exon 7 (coding exon 7) of the AMPD1 gene. This alteration results from a C to T substitution at nucleotide position 886, causing the arginine (R) at amino acid position 296 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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