ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)

gnomAD frequency: 0.00002  dbSNP: rs142867979
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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 RCV000167252 SCV000218092 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-22 criteria provided, single submitter clinical testing The p.V1794A variant (also known as c.5381T>C), located in coding exon 38 of the NF1 gene, results from a T to C substitution at nucleotide position 5381. The valine at codon 1794 is replaced by alanine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs142867979. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied and 0.01% (1/8600) European American alleles. To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 30000 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.V1794A remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000528734 SCV000628658 likely benign Neurofibromatosis, type 1 2024-11-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000528734 SCV002560543 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485040 SCV002788033 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558413 SCV005048217 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-10-24 criteria provided, single submitter clinical testing The c.5318T>C (p.V1773A) alteration is located in exon 37 (coding exon 37) of the NF1 gene. This alteration results from a T to C substitution at nucleotide position 5318, causing the valine (V) at amino acid position 1773 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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