ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg)

gnomAD frequency: 0.00029  dbSNP: rs150190849
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732206 SCV000860129 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000732206 SCV001147385 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868973 SCV002181613 uncertain significance Muscle AMP deaminase deficiency 2022-09-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 357 of the AMPD1 protein (p.Gln357Arg). This variant is present in population databases (rs150190849, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596387). 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 not expected to disrupt AMPD1 protein function. 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.
Revvity Omics, Revvity RCV001868973 SCV003826241 uncertain significance Muscle AMP deaminase deficiency 2019-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165983 SCV003862452 uncertain significance Inborn genetic diseases 2023-02-09 criteria provided, single submitter clinical testing The c.1070A>G (p.Q357R) alteration is located in exon 8 (coding exon 8) of the AMPD1 gene. This alteration results from a A to G substitution at nucleotide position 1070, causing the glutamine (Q) at amino acid position 357 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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