ClinVar Miner

Submissions for variant NM_006014.5(LAGE3):c.28G>A (p.Gly10Arg)

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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 RCV003068285 SCV003452596 uncertain significance not provided 2024-09-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 10 of the LAGE3 protein (p.Gly10Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LAGE3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2144225). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004935299 SCV005607027 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The c.28G>A (p.G10R) alteration is located in exon 1 (coding exon 1) of the LAGE3 gene. This alteration results from a G to A substitution at nucleotide position 28, causing the glycine (G) at amino acid position 10 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003068285 SCV005891712 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing LAGE3: BS2
PreventionGenetics, part of Exact Sciences RCV003943731 SCV004763463 likely benign LAGE3-related disorder 2023-10-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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