ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.138+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577092 SCV005060907 likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions criteria provided, single submitter clinical testing The observed splice donor variant c.138+2T>C in GRN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.138+2T>C variant is absent in gnomAD Exomes.The variant affects the GT donor splice site downstream of exon 2. This variant is predicted to be damaging by SpliceAI Prediction. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing (Smith KR, et al., 2012). For these reasons, this variant has been classified as Likely Pathogenic.

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