ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)

gnomAD frequency: 0.00003  dbSNP: rs774971794
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037469 SCV001200884 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 720 of the NAGLU protein (p.Arg720Gln). This variant is present in population databases (rs774971794, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NAGLU-related conditions. ClinVar contains an entry for this variant (Variation ID: 836355). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
New York Genome Center RCV001593198 SCV001815767 uncertain significance Mucopolysaccharidosis, MPS-III-B 2020-07-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551385 SCV003545208 likely benign Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001593198 SCV002093285 uncertain significance Mucopolysaccharidosis, MPS-III-B 2021-01-29 no assertion criteria provided clinical testing

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