ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) (rs758756630)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657915 SCV000779682 likely pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing A likely pathogenic variant has been identified in the SGSH gene. The T321A variant has been reported previously in the homozygous state in an individual with mucopolysaccharidosis type IIIA; however, it is not known whether biparental inheritance was confirmed (Bunge et al., 1997). The T321A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The T321A 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Additionally, missense variants in nearby residues have been reported in the Human Gene Mutation Database in individuals with mucopolysaccharidosis type IIIA (Stenson et al., 2014). Based on the currently available information, we interpret T321A as a likely pathogenic variant.
Counsyl RCV000667635 SCV000792115 uncertain significance Mucopolysaccharidosis, MPS-III-A 2017-06-21 criteria provided, single submitter clinical testing

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