ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)

gnomAD frequency: 0.00001  dbSNP: rs371773406
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166659 SCV000217464 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing The p.S2496C variant (also known as c.7487C>G), located in coding exon 51 of the NF1 gene, results from a C to G substitution at nucleotide position 7487. The serine at codon 2496 is replaced by cysteine, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs371773406. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied, having been observed in 0.02% (1/4406) African American alleles. To date, this alteration has been detected with an allele frequency of approximately 0.004% (greater than 55000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.S2496C remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000198334 SCV000254513 likely benign Neurofibromatosis, type 1 2025-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000198334 SCV002561089 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV002460944 SCV002756760 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365)
Fulgent Genetics, Fulgent Genetics RCV002492671 SCV002785411 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558397 SCV005048413 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-09-17 criteria provided, single submitter clinical testing The c.7424C>G (p.S2475C) alteration is located in exon 50 (coding exon 50) of the NF1 gene. This alteration results from a C to G substitution at nucleotide position 7424, causing the serine (S) at amino acid position 2475 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004567310 SCV005052241 uncertain significance Juvenile myelomonocytic leukemia 2024-02-02 criteria provided, single submitter clinical testing

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