Submissions for variant NM_001042492.3(NF1):c.625C>T (p.Gln209Ter)

dbSNP: rs786203448

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166757	SCV000217569	pathogenic	Hereditary cancer-predisposing syndrome	2014-11-04	criteria provided, single submitter	clinical testing	The p.Q209* pathogenic mutation (also known as c.625C>T), located in coding exon 6 of the NF1 gene, results from a C to T substitution at nucleotide position 625. This changes the amino acid from a glutamine to a stop codon within coding exon 6. <span data-redactor="verified" style="background-color: initial;">Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília	RCV000204041	SCV000223902	pathogenic	Neurofibromatosis, type 1	2015-04-01	criteria provided, single submitter	research
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV000204041	SCV001571439	pathogenic	Neurofibromatosis, type 1	2021-02-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204041	SCV001589678	pathogenic	Neurofibromatosis, type 1	2024-10-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln209*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 25480383, 26380986). ClinVar contains an entry for this variant (Variation ID: 187069). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab	RCV000204041	SCV002561589	pathogenic	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	RCV000204041	SCV004123100	pathogenic	Neurofibromatosis, type 1	2023-07-01	criteria provided, single submitter	research