ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) (rs753666460)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413143 SCV000491271 likely pathogenic not provided 2016-06-06 criteria provided, single submitter clinical testing The G191R variant in the SGSH gene has been reported previously in association with mucopolysaccharidosis type IIIA, when present in the homozygous state or when seen with another variant (Muschol et al., 2004; Zhang et al., 2008; Valstar et al., 2010). Functional studies show the G191R expression is significantly reduced and is enzymatically inactive (Muschol et al., 2004). The G191R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G191R 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. This substitution occurs at a position that is conserved across species. The G191R variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Counsyl RCV000672002 SCV000797053 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2018-01-15 no assertion criteria provided clinical testing

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