ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) (rs104894598)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000001634 SCV000267414 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2016-03-18 criteria provided, single submitter reference population
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000001634 SCV001362136 pathogenic Mucopolysaccharidosis, MPS-III-B 2019-08-18 criteria provided, single submitter clinical testing Variant summary: NAGLU c.1694G>C (p.Arg565Pro) results in a non-conservative amino acid change located in the Alpha-N-acetylglucosaminidase, C-terminal domain (IPR024732) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248730 control chromosomes. c.1694G>C has been reported in the literature in multiple individuals affected with Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome B) (Weber_1999, Chinen_2005). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity in homozygous individuals (Chinen_2005). 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 citing only Weber_1999. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000001634 SCV000021790 pathogenic Mucopolysaccharidosis, MPS-III-B 2005-01-01 no assertion criteria provided literature only

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