ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.900_901dup (p.Ser301fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004548868 SCV004710158 likely pathogenic GRN-related disorder 2024-02-13 no assertion criteria provided clinical testing The GRN c.900_901dupGT variant is predicted to result in a frameshift and premature protein termination (p.Ser301Cysfs*61). This variant was reported in an individual with corticobasal degeneration syndrome and in an individual with behavioural-variant frontotemporal dementia (Almeida et al. 2013. PubMed ID: 24022032). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in GRN are expected to be pathogenic and protein-truncating variants upstream and downstream of this variant have been previously reported (HGMD, ClinVar). This variant is interpreted as likely pathogenic.

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