ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.708+6_708+9del (rs778599933)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712530 SCV000843042 likely pathogenic not provided 2018-06-08 criteria provided, single submitter clinical testing
Invitae RCV000822240 SCV000963033 uncertain significance Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2018-08-06 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the GRN gene. It does not directly change the encoded amino acid sequence of the GRN protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with frontotemporal lobar degeneration (PMID: 24709683, 20975516, 27859661). This variant is also known as IVS6+5_8delGTGA (g.101707_101710delGTGA) and g.1642_1645delTGAG (IVS7 + 1delTGAG) in the literature. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this intronic change results in exon skipping (PMID: 20975516). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000712530 SCV001151346 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing

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