ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)

dbSNP: rs1326795798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698280 SCV000826936 benign Neurofibromatosis, type 1 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440494 SCV002680594 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-03-31 criteria provided, single submitter clinical testing The p.H2786Q variant (also known as c.8358C>A), located in coding exon 57 of the NF1 gene, results from a C to A substitution at nucleotide position 8358. The histidine at codon 2786 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is 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.
Baylor Genetics RCV003460953 SCV004198329 uncertain significance Juvenile myelomonocytic leukemia 2023-09-05 criteria provided, single submitter clinical testing

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