ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) (rs1554537586)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669280 SCV000794019 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV001390807 SCV001592655 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-01-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 489 of the HGSNAT protein (p.Ala489Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Sanfilippo syndrome (PMID: 19479962, 31228227). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 553763). This variant has been reported to affect HGSNAT protein function (PMID: 19823584, 20583299). For these reasons, this variant has been classified as Pathogenic.

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