ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377344 SCV001574651 likely pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-10-09 criteria provided, single submitter clinical testing This variant, c.214_237dup, results in the insertion of 8 amino acid(s) to the NAGLU protein (p.Ala72_Gly79dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 20852935, 22976768). Experimental studies have shown that this variant affects NAGLU protein function (PMID: 28751108). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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