ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.1243C>G (p.Gln415Glu)

gnomAD frequency: 0.00001  dbSNP: rs775888774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001999629 SCV002292595 uncertain significance GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2024-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 415 of the GRN protein (p.Gln415Glu). This variant is present in population databases (rs775888774, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1505884). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GRN protein function with a negative predictive value of 80%. 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 RCV004976146 SCV005594113 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.1243C>G (p.Q415E) alteration is located in exon 11 (coding exon 10) of the GRN gene. This alteration results from a C to G substitution at nucleotide position 1243, causing the glutamine (Q) at amino acid position 415 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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