ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2390C>T (p.Ala797Val)

dbSNP: rs1181350360
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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 RCV002316633 SCV000666763 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-07-17 criteria provided, single submitter clinical testing The p.A797V variant (also known as c.2390C>T), located in coding exon 20 of the NF1 gene, results from a C to T substitution at nucleotide position 2390. The alanine at codon 797 is replaced by valine, an amino acid with similar properties. This amino acid position is not 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 this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000706982 SCV000836058 benign Neurofibromatosis, type 1 2024-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001755935 SCV002005665 uncertain significance not provided 2023-08-27 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)
Genome-Nilou Lab RCV000706982 SCV002562036 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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