ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) (rs727503962)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 2020-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 237 of the HGSNAT protein (p.Pro237Gln). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and glutamine. This variant is present in population databases (rs727503962, ExAC 0.02%). This variant has been observed in individuals with Sanfillipo syndrome (PMID:17033958, 18024218, Invitae). However, in all of these individuals pathogenic alleles were also identified in HGSNAT, which suggests that this c.710C>A variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 167177). This variant has been reported not to substantially affect HGSNAT protein function (PMID: 19823584, 20825431, 20583299). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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