ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1116G>A (p.Met372Ile)

gnomAD frequency: 0.02463  dbSNP: rs58786455
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248430 SCV000302950 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001081120 SCV000407350 benign Mucopolysaccharidosis, MPS-III-A 2018-01-12 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.
Invitae RCV001081120 SCV000629961 benign Mucopolysaccharidosis, MPS-III-A 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676151 SCV000982736 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001081120 SCV002045515 benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676151 SCV000801899 benign not provided 2017-04-25 no assertion criteria provided clinical testing
Natera, Inc. RCV001081120 SCV001463871 benign Mucopolysaccharidosis, MPS-III-A 2020-09-16 no assertion criteria provided clinical testing

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