ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)

dbSNP: rs1216052074
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669256 SCV000793991 uncertain significance Mucopolysaccharidosis, MPS-III-B 2017-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855517 SCV002133416 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2022-10-17 criteria provided, single submitter clinical testing This variant, c.2186_2188del, results in the deletion of 1 amino acid(s) of the NAGLU protein (p.Lys729del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has been observed in individual(s) with mucopolysaccharidosis type IIIB (PMID: 22976768). ClinVar contains an entry for this variant (Variation ID: 553743). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects NAGLU function (PMID: 11153910). 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 RCV003133495 SCV003813417 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing
GeneDx RCV003133495 SCV005333670 pathogenic not provided 2024-03-27 criteria provided, single submitter clinical testing Published functional studies found this variant is associated with significantly reduced enzyme activity (PMID: 11153910); In-frame deletion of one amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Also known as c.2185delAGA; This variant is associated with the following publications: (PMID: 34806811, 22976768, 11153910)

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