ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)

gnomAD frequency: 0.00003  dbSNP: rs200416815
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967634 SCV001115028 benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001159323 SCV001321030 benign Mucopolysaccharidosis, MPS-III-C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Dept Of Ophthalmology, Nagoya University RCV003890124 SCV004706033 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003905933 SCV004730531 likely benign HGSNAT-related condition 2020-01-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001159323 SCV001460913 benign Mucopolysaccharidosis, MPS-III-C 2020-01-04 no assertion criteria provided clinical testing

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