ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro)

dbSNP: rs761109477
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469403 SCV000542000 likely benign Neurofibromatosis, type 1 2024-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313154 SCV000663200 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-07-08 criteria provided, single submitter clinical testing The p.A804P variant (also known as c.2410G>C) is located in coding exon 21 of the NF1 gene. The alanine at codon 804 is replaced by proline, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 21. 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.
GeneDx RCV000681141 SCV000808599 uncertain significance not provided 2024-10-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25486365)
Genome-Nilou Lab RCV000469403 SCV002562041 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000681141 SCV005624540 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing

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