ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.652G>A (p.Gly218Ser)

gnomAD frequency: 0.00001  dbSNP: rs559530222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489692 SCV000577144 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001363343 SCV001559450 uncertain significance Brugada syndrome 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 218 of the GPD1L protein (p.Gly218Ser). This variant is present in population databases (rs559530222, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GPD1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 426646). 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 disruptive. 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 RCV003168997 SCV003859620 uncertain significance Cardiovascular phenotype 2024-03-07 criteria provided, single submitter clinical testing The c.652G>A (p.G218S) alteration is located in exon 6 (coding exon 6) of the GPD1L gene. This alteration results from a G to A substitution at nucleotide position 652, causing the glycine (G) at amino acid position 218 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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