ClinVar Miner

Submissions for variant NM_020208.4(SLC6A20):c.417T>C (p.Cys139=)

gnomAD frequency: 0.96062  dbSNP: rs758386
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000311879 SCV000444572 benign Hyperglycinuria 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.
GeneDx RCV001643047 SCV001859373 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000311879 SCV002056653 benign Hyperglycinuria 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001643047 SCV005241656 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972458 SCV004796043 benign SLC6A20-related disorder 2019-09-24 no assertion criteria provided 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).

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