ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.513C>T (p.Cys171=)

gnomAD frequency: 0.00044  dbSNP: rs147974849
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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 RCV000533654 SCV000652429 likely benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316578 SCV000851101 likely benign Inborn genetic diseases 2016-06-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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