ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro)

gnomAD frequency: 0.00001  dbSNP: rs876658554
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223563 SCV000273964 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-16 criteria provided, single submitter clinical testing The p.S2694P variant (also known as c.8080T>C), located in coding exon 55 of the NF1 gene, results from a T to C substitution at nucleotide position 8080. The serine at codon 2694 is replaced by proline, an amino acid with 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 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 110000 alleles tested) in our clinical cohort. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.S2694P remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000632500 SCV000753685 benign Neurofibromatosis, type 1 2024-10-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000632500 SCV002561174 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558490 SCV005048655 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-04 criteria provided, single submitter clinical testing The c.8017T>C (p.S2673P) alteration is located in exon 54 (coding exon 54) of the NF1 gene. This alteration results from a T to C substitution at nucleotide position 8017, causing the serine (S) at amino acid position 2673 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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