ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.928G>A (p.Gly310Arg) (rs1480640960)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658258 SCV000780029 likely pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the NAGLU gene. The G310R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G310R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The G310R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Missense variants in nearby residues have been reported in the Human Gene Mutation Database in individuals with Sanfilippo syndrome B (Stenson et al., 2014). However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, this variant is likely pathogenic, and homozygosity for G310R is likely consistent with a diagnosis of Sanfilippo syndrome B in this individual.

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