ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.384-1G>A (rs764134891)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668095 SCV000792643 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-07-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000668095 SCV001372384 pathogenic Mucopolysaccharidosis, MPS-III-B 2020-06-20 criteria provided, single submitter clinical testing Variant summary: NAGLU c.384-1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Three predict the variant abolishes a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 251428 control chromosomes. c.384-1G>A has been reported in the literature in at-least one homozygous individual affected with Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome B) (example, Pollard_2013). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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