ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.659G>A (p.Gly220Asp)

gnomAD frequency: 0.00015  dbSNP: rs145436860
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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 RCV000633023 SCV000754235 uncertain significance Spastic paraplegia 2023-07-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 220 of the GBA2 protein (p.Gly220Asp). This variant is present in population databases (rs145436860, gnomAD 0.02%). 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: 527983). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GBA2 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.
Baylor Genetics RCV001336004 SCV001529274 uncertain significance Hereditary spastic paraplegia 46 2018-11-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849002 SCV002104718 uncertain significance Hereditary spastic paraplegia 2021-03-02 criteria provided, single submitter clinical testing

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