ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)

dbSNP: rs1567890245
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696910 SCV000825491 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-03-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NAGLU protein in which other variant(s) (p.Val77Gly) have been determined to be pathogenic (PMID: 16151907, 30809705). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 574862). This variant has been observed in individual(s) with clinical features of autosomal recessive mucopolysaccharidosis type III (PMID: 20852935). This variant is not present in population databases (gnomAD no frequency). This variant, c.214_237del, results in the deletion of 8 amino acid(s) of the NAGLU protein (p.Ala72_Gly79del), but otherwise preserves the integrity of the reading frame.

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