ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)

dbSNP: rs727503962
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153362 SCV000202846 benign not specified 2014-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000670920 SCV000795836 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-11-20 criteria provided, single submitter clinical testing
Mendelics RCV000670920 SCV001137617 benign Mucopolysaccharidosis, MPS-III-C 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001243388 SCV001416544 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 237 of the HGSNAT protein (p.Pro237Gln). This variant is present in population databases (rs727503962, gnomAD 0.01%). This missense change has been observed in individual(s) with Sanfillipo syndrome (PMID: 17033958, 18024218, 33673364; Invitae). ClinVar contains an entry for this variant (Variation ID: 167177). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HGSNAT protein function. Experimental studies have shown that this missense change does not substantially affect HGSNAT function (PMID: 19823584, 20583299, 20825431). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV001815238 SCV002063190 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV001815238 SCV002501390 uncertain significance not provided 2021-05-22 criteria provided, single submitter clinical testing

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