ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) (rs121908976)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169480 SCV000220926 likely pathogenic Glucose-6-phosphate transport defect 2014-12-01 criteria provided, single submitter literature only
Illumina Clinical Services Laboratory,Illumina RCV000779044 SCV000915502 uncertain significance Glycogen storage disease, type I 2018-10-31 criteria provided, single submitter clinical testing The SLC37A4 c.287G>A (p.Trp96Ter) variant is a stop-gained variant, which was observed by ICSL 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 for this variant, it 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. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Trp96Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for glycogen storage disease type I.
OMIM RCV000007339 SCV000027537 pathogenic Phosphate transport defect 1998-10-01 no assertion criteria provided literature only

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