ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3428A>G (p.His1143Arg)

dbSNP: rs1555614965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553517 SCV000628520 benign Neurofibromatosis, type 1 2024-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001799676 SCV002044239 uncertain significance not provided 2024-02-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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, 2121369, 22807134)
Genome-Nilou Lab RCV000553517 SCV002560295 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456062 SCV002615554 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-02-15 criteria provided, single submitter clinical testing The p.H1143R variant (also known as c.3428A>G), located in coding exon 26 of the NF1 gene, results from an A to G substitution at nucleotide position 3428. The histidine at codon 1143 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.

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