ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2734C>T (p.Gln912Ter)

dbSNP: rs1597715673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810382 SCV000950578 pathogenic Neurofibromatosis, type 1 2022-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln912*) 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: 654419). This premature translational stop signal has been observed in individual(s) with NF1-related conditions (PMID: 21520333, 34489640).
Ambry Genetics RCV002319114 SCV001177392 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-06-21 criteria provided, single submitter clinical testing The p.Q912* pathogenic mutation (also known as c.2734C>T), located in coding exon 21 of the NF1 gene, results from a C to T substitution at nucleotide position 2734. This changes the amino acid from a glutamine to a stop codon within coding exon 21. 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.
Genome-Nilou Lab RCV000810382 SCV002561800 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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