ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.647G>A (p.Arg216Gln)

dbSNP: rs1035133767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002001530 SCV002274956 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2021-09-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 216 of the GYG1 protein (p.Arg216Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine.
Ambry Genetics RCV002592614 SCV003630256 uncertain significance Inborn genetic diseases 2022-07-13 criteria provided, single submitter clinical testing The c.647G>A (p.R216Q) alteration is located in exon 6 (coding exon 6) of the GYG1 gene. This alteration results from a G to A substitution at nucleotide position 647, causing the arginine (R) at amino acid position 216 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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