ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.229_236del (p.Val77fs)

dbSNP: rs2143076634
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271923 SCV002556208 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2022-06-28 criteria provided, single submitter clinical testing Variant summary: NAGLU c.229_236delGTGCGCGG (p.Val77LeufsX112) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 28936 control chromosomes (gnomAD). To our knowledge, no occurrence of c.229_236delGTGCGCGG in individuals affected with Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome B) and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, but a different overlapping frameshift variant has been classified as pathogenic/likely pathogenic (c.219_237del [p.Arg74fs], ClinVar:554876). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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