ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.1742A>T (p.Asp581Val) (rs768223928)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518609 SCV000613575 benign not specified 2017-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718489 SCV000849353 uncertain significance Seizures 2019-06-24 criteria provided, single submitter clinical testing The p.D581V variant (also known as c.1742A>T), located in coding exon 12 of the GRN gene, results from an A to T substitution at nucleotide position 1742. The aspartic acid at codon 581 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be inconclusive by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000983946 SCV001131996 likely benign not provided 2018-10-26 criteria provided, single submitter clinical testing
Invitae RCV001404573 SCV001606476 likely benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2018-11-05 criteria provided, single submitter clinical testing

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