ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043921 SCV001207690 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2019-11-25 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 309 of the NAGLU protein (p.Tyr309Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another NAGLU variant in individuals affected with mucopolysaccharidosis type III (PMID: 11836372, 16151907, 25466957), and has been shown to segregate with disease in a family. This variant has been reported to affect NAGLU protein function (PMID: 11836372). For these reasons, this variant has been classified as Pathogenic.

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