ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.1561G>A (p.Gly521Ser)

gnomAD frequency: 0.00017  dbSNP: rs371611090
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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 RCV000463975 SCV000552252 uncertain significance Spastic paraplegia 2022-04-10 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 521 of the GBA2 protein (p.Gly521Ser). This variant is present in population databases (rs371611090, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with GBA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 411202). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
CeGaT Center for Human Genetics Tuebingen RCV001311778 SCV001502080 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848814 SCV002104704 uncertain significance Hereditary spastic paraplegia 2016-12-20 criteria provided, single submitter clinical testing

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