ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.880G>C (p.Glu294Gln)

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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 RCV002615536 SCV003498990 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 294 of the GYG1 protein (p.Glu294Gln). This variant is present in population databases (rs748775464, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002615537 SCV003576790 uncertain significance Inborn genetic diseases 2021-09-28 criteria provided, single submitter clinical testing The c.880G>C (p.E294Q) alteration is located in exon 8 (coding exon 8) of the GYG1 gene. This alteration results from a G to C substitution at nucleotide position 880, causing the glutamic acid (E) at amino acid position 294 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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