ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) (rs483352897)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626637 SCV000747339 pathogenic Hypertrichosis; Abnormality of metabolism/homeostasis; Coarse facial features; Abnormal facial shape; Thick eyebrow; Hepatosplenomegaly; Mucopolysacchariduria; Intellectual disability, severe 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV001047802 SCV001211783 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser169Argfs*13) in the NAGLU gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with Sanfilippo syndrome type B (PMID: 8650226). This variant is also known in the literature as 503del10. Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001630 SCV000021786 pathogenic Mucopolysaccharidosis, MPS-III-B 1996-06-11 no assertion criteria provided literature only

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