ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) (rs886043792)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000332868 SCV000342029 pathogenic not provided 2016-06-04 criteria provided, single submitter clinical testing
Invitae RCV001068161 SCV001233253 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln232*) 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 not been reported in the literature in individuals with NAGLU-related conditions. ClinVar contains an entry for this variant (Variation ID: 288040). 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.
Counsyl RCV000984288 SCV001132438 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-02-07 no assertion criteria provided clinical testing

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