ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) (rs753472891)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668365 SCV000792951 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-07-27 criteria provided, single submitter clinical testing
Invitae RCV000668365 SCV000963681 pathogenic Mucopolysaccharidosis, MPS-III-A 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 235 of the SGSH protein (p.Asp235Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs753472891, ExAC 0.02%). This variant has been observed in combination with another SGSH variant in individuals affected with mucopolysaccharidosis type III (PMID: 11182930, 19099774, 12000360, Invitae). Experimental studies have shown that this missense change results in a SGSH protein with minimal enzyme activity (PMID: 12000360). The observation of one or more missense substitutions at this codon (p.Asp235Asn and p.Asp235Val) in affected individuals suggests that this may be a clinically significant residue (PMID: 9401012). For these reasons, this variant has been classified as Pathogenic.

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