ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.397del (p.Gln133fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002308304 SCV002601998 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2022-03-15 criteria provided, single submitter clinical testing NM_000263.3(NAGLU):c.397delC(Q133Rfs*22) is expected to be pathogenic in the context of mucopolysaccharidosis type IIIB. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in NAGLU, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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