ClinVar Miner

Submissions for variant NM_000151.4(G6PC):c.150_151del (p.Trp50fs) (rs1057516674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409261 SCV000486049 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2016-03-22 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000409261 SCV000891162 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2019-03-02 criteria provided, single submitter clinical testing The observed variant NM_000151.3:g.230_231delGT/p.Trp50CysfsTer10 is a two base pair deletion in exon 1 of the G6PC gene. It has not been reported in the 1000 Genomes and ExAC databases. It has been reported as a common mutation in Indian patients with glycogen storage disease type Ia by Meaney.C et al (2001). The in silico prediction of this variant is disease causing by MutationTaster2. The reference codon is conserved across species.

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