ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.162_163del (p.Asp56fs)

gnomAD frequency: 0.00006  dbSNP: rs587777375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000116203 SCV000923498 likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000116203 SCV003443405 pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2023-03-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs587777375, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Asp56Argfs*108) in the GYS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GYS1 are known to be pathogenic (PMID: 17928598, 19699667). This premature translational stop signal has been observed in individual(s) with clinical features of glycogen synthase deficiency (PMID: 19699667). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 128236).
OMIM RCV000116203 SCV000150112 pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2009-12-01 no assertion criteria provided literature only

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