ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1002C>T (p.Ala334=)

gnomAD frequency: 0.00113  dbSNP: rs145596938
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891840 SCV000302948 benign SGSH-related disorder 2020-12-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Eurofins Ntd Llc (ga) RCV000253023 SCV000342304 likely benign not specified 2016-05-20 criteria provided, single submitter clinical testing
Invitae RCV000967719 SCV001115135 benign Mucopolysaccharidosis, MPS-III-A 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000967719 SCV001283023 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV000967719 SCV002045090 likely benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000967719 SCV001463876 benign Mucopolysaccharidosis, MPS-III-A 2020-09-16 no assertion criteria provided clinical testing

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