ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) (rs1555620214)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664949 SCV000788991 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2016-12-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000664949 SCV000920204 pathogenic Mucopolysaccharidosis, MPS-III-A 2018-08-20 criteria provided, single submitter clinical testing Variant summary: SGSH c.1166A>G (p.Asn389Ser) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. In silico studies also predicted damaging effect for the variant on enzyme structure or activity (Sidhu 2014, Ugrinov 2015). The variant was absent in 246048 control chromosomes (gnomAD). c.1166A>G has been reported in the literature in individuals affected with Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome A) (Pollard 2013, Shapiro 2016). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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