ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2950G>A (p.Val984Ile)

dbSNP: rs1160721945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704877 SCV000833849 uncertain significance Glycogen storage disease type III 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 984 of the AGL protein (p.Val984Ile). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 581137). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV005328365 SCV005996561 uncertain significance Inborn genetic diseases 2025-01-26 criteria provided, single submitter clinical testing The c.2950G>A (p.V984I) alteration is located in exon 23 (coding exon 22) of the AGL gene. This alteration results from a G to A substitution at nucleotide position 2950, causing the valine (V) at amino acid position 984 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000704877 SCV002094514 uncertain significance Glycogen storage disease type III 2020-09-22 no assertion criteria provided clinical testing

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