ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.110G>A (p.Arg37His)

gnomAD frequency: 0.00009  dbSNP: rs199834981
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000379429 SCV000439009 uncertain significance Alpha-N-acetylgalactosaminidase deficiency type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287258 SCV000439010 uncertain significance Alpha-N-acetylgalactosaminidase deficiency type 1 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733060 SCV000861079 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV000287258 SCV003279916 uncertain significance Alpha-N-acetylgalactosaminidase deficiency type 1 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 37 of the NAGA protein (p.Arg37His). This variant is present in population databases (rs199834981, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NAGA-related conditions. ClinVar contains an entry for this variant (Variation ID: 341913). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NAGA 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.
Ambry Genetics RCV003243099 SCV003938327 uncertain significance Inborn genetic diseases 2023-03-28 criteria provided, single submitter clinical testing The c.110G>A (p.R37H) alteration is located in exon 2 (coding exon 2) of the NAGA gene. This alteration results from a G to A substitution at nucleotide position 110, causing the arginine (R) at amino acid position 37 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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