ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206725 SCV001378047 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-06-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys301Argfs*15) in the NAGLU gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with mucopolysaccharidosis IIIB (PMID: 9443878). This variant is also known as 901delAA in the literature. 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.

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