ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378696 SCV001576322 likely pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-10-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 153 of the NAGLU protein (p.Glu153Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with NAGLU-related conditions (PMID: 11793481,31236806,9443878). This variant has been reported to affect NAGLU protein function (PMID: 9443878, 29979746). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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