Submissions for variant NM_001042492.3(NF1):c.385C>T (p.Gln129Ter)

dbSNP: rs2143672195

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002368160	SCV002624756	pathogenic	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2020-09-08	criteria provided, single submitter	clinical testing	The p.Q129* pathogenic mutation (also known as c.385C>T), located in coding exon 4 of the NF1 gene, results from a C to T substitution at nucleotide position 385. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001353335	SCV003441686	pathogenic	Neurofibromatosis, type 1	2022-02-24	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln129*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1048748). This variant has not been reported in the literature in individuals affected with NF1-related conditions.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV001353335	SCV001548468	pathogenic	Neurofibromatosis, type 1	2020-01-01	no assertion criteria provided	clinical testing
Laboratory of Urology, Hospital Clinic de Barcelona	RCV003332327	SCV004040615	pathogenic	Malignant tumor of urinary bladder		no assertion criteria provided	research