ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)

gnomAD frequency: 0.00009  dbSNP: rs147977213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542111 SCV000626712 likely benign Glycogen storage disease type III 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528305 SCV003737122 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.2930G>A (p.R977Q) alteration is located in exon 22 (coding exon 21) of the AGL gene. This alteration results from a G to A substitution at nucleotide position 2930, causing the arginine (R) at amino acid position 977 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000542111 SCV003919837 uncertain significance Glycogen storage disease type III 2021-03-30 criteria provided, single submitter clinical testing AGL NM_000642.2 exon 22 p.Arg977Gln (c.2930G>A): This variant has not been reported in the literature but is present in 0.1% (22/19952) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-100356893-G-A). This variant is present in ClinVar (Variation ID:456478). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Natera, Inc. RCV000542111 SCV002094509 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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