ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.635G>A (p.Arg212Gln)

gnomAD frequency: 0.00029  dbSNP: rs63750787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815880 SCV000956358 uncertain significance GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 212 of the GRN protein (p.Arg212Gln). This variant is present in population databases (rs63750787, gnomAD 0.03%). This missense change has been observed in individual(s) with frontotemporal dementia (PMID: 21800185). ClinVar contains an entry for this variant (Variation ID: 98145). 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 GRN 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 RCV002513901 SCV003646399 uncertain significance Inborn genetic diseases 2021-04-20 criteria provided, single submitter clinical testing Unlikely to be causative of GRN-related frontotemporal dementia (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
VIB Department of Molecular Genetics, University of Antwerp RCV000084448 SCV000116584 not provided not provided no assertion provided not provided

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