ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.28G>A (p.Val10Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320853 SCV001511660 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-09-25 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 10 of the NAGLU protein (p.Val10Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with NAGLU-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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