ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) (rs768814260)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668171 SCV000792729 pathogenic Mucopolysaccharidosis, MPS-III-B 2017-07-11 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000668171 SCV000929909 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2019-01-01 criteria provided, single submitter literature only PS3: Low in vitro enzymatic activity. PM2: Very low frequency in GnomAD
Invitae RCV000819008 SCV000959647 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2018-09-11 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 414 of the NAGLU protein (p.His414Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs768814260, ExAC 0.006%). This variant has been observed to be homozygous or in combination with another NAGLU variant in families affected with mucopolysaccharidosis type IIIB (PMID: 14984474, 22976768). Experimental studies have shown that this missense change abrogates NAGLU enzyme activity (PMID: 14984474). For these reasons, this variant has been classified as Pathogenic.

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