ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)

gnomAD frequency: 0.00001  dbSNP: rs863224664
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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 RCV000198278 SCV000254510 likely benign Neurofibromatosis, type 1 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315628 SCV000663062 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-03-12 criteria provided, single submitter clinical testing The p.H2436R variant (also known as c.7307A>G), located in coding exon 49 of the NF1 gene, results from an A to G substitution at nucleotide position 7307. The histidine at codon 2436 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000681024 SCV000808475 uncertain significance not provided 2020-09-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000198278 SCV002561064 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462327 SCV004198242 uncertain significance Juvenile myelomonocytic leukemia 2023-10-22 criteria provided, single submitter clinical testing

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