ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys)

gnomAD frequency: 0.00001  dbSNP: rs199474757
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316211 SCV000670499 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-04-28 criteria provided, single submitter clinical testing The p.Y491C variant (also known as c.1472A>G), located in coding exon 13 of the NF1 gene, results from an A to G substitution at nucleotide position 1472. The tyrosine at codon 491 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was identified in two individuals with neurofibromatosis type 1 in a study of more than 500 neurofibromatosis type 1 probands (Fahsold R et al. Am. J. Hum. Genet., 2000 Mar;66:790-818). 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 RCV000703856 SCV000832780 benign Neurofibromatosis, type 1 2024-04-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000703856 SCV002561919 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000059152 SCV005079263 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24803665, 10712197)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000059152 SCV005623782 uncertain significance not provided 2024-12-07 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059152 SCV000090681 not provided not provided no assertion provided not provided

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