ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser)

gnomAD frequency: 0.00001  dbSNP: rs199474754
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213891 SCV000275261 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-01 criteria provided, single submitter clinical testing The p.N1451S variant (also known as c.4352A>G), located in coding exon 33 of the NF1 gene, results from an A to G substitution at nucleotide position 4352. The asparagine at codon 1451 is replaced by serine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6501 samples (13002 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 55000 alleles tested) in our clinical cohort.This amino acid position is highly conserved in available vertebrate species.In addition, the in silico prediction for this alteration is inconclusive.Since supporting evidence for this variant is limited at this time, the clinical significance of p.N1451Sremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000543420 SCV000628585 likely benign Neurofibromatosis, type 1 2025-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000543420 SCV002560410 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV002464146 SCV002759165 uncertain significance not provided 2022-06-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23913538, 25486365, 22807134, 27322474, 21567923, 16380919, 12787671)
Ambry Genetics RCV004558512 SCV005048690 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-07-23 criteria provided, single submitter clinical testing The c.4289A>G (p.N1430S) alteration is located in exon 32 (coding exon 32) of the NF1 gene. This alteration results from a A to G substitution at nucleotide position 4289, causing the asparagine (N) at amino acid position 1430 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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