Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153533 | SCV000203061 | pathogenic | not provided | 2013-12-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000001627 | SCV000789321 | pathogenic | Mucopolysaccharidosis, MPS-III-B | 2017-01-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000802847 | SCV000942693 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg626*) in the NAGLU gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 118 amino acid(s) of the NAGLU protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with mucopolysaccharidosis (PMID: 8650226, 9832037, 10094189). ClinVar contains an entry for this variant (Variation ID: 1561). For these reasons, this variant has been classified as Pathogenic. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000001627 | SCV001362138 | pathogenic | Mucopolysaccharidosis, MPS-III-B | 2019-11-11 | criteria provided, single submitter | clinical testing | Variant summary: NAGLU c.1876C>T (p.Arg626X) 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. The variant allele was found at a frequency of 2.2e-05 in 229530 control chromosomes. c.1876C>T has been reported in the literature in multiple individuals affected with Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome B) (Beesley_1998, Weber_1999, Zhao_1996, Zhao_1998). These data indicate that the variant is very likely to be associated with disease. No experimental evidence demonstrating an impact on protein function was ascertained. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Laboratory of Medical Genetics, |
RCV000001627 | SCV001976823 | pathogenic | Mucopolysaccharidosis, MPS-III-B | 2021-10-05 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP5 |
Fulgent Genetics, |
RCV000802847 | SCV002789944 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2022-02-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000001627 | SCV000021783 | pathogenic | Mucopolysaccharidosis, MPS-III-B | 1996-06-11 | no assertion criteria provided | literature only | |
Natera, |
RCV000001627 | SCV001463394 | pathogenic | Mucopolysaccharidosis, MPS-III-B | 2020-09-16 | no assertion criteria provided | clinical testing |