ClinVar Miner

Submissions for variant NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met)

gnomAD frequency: 0.06722  dbSNP: rs17279437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000005117 SCV000444567 benign Hyperglycinuria 2018-03-06 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.
Mendelics RCV000005117 SCV001136513 benign Hyperglycinuria 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001636599 SCV001851893 benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19033659, 21572414)
OMIM RCV000005117 SCV000025294 affects Hyperglycinuria 2008-12-01 no assertion criteria provided literature only

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