ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1636A>G (p.Met546Val)

dbSNP: rs2066877456
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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 RCV001044247 SCV001208034 likely benign Neurofibromatosis, type 1 2024-06-06 criteria provided, single submitter clinical testing
GeneDx RCV001759756 SCV002007289 uncertain significance not provided 2024-06-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 25486365)
Genome-Nilou Lab RCV001044247 SCV002561931 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400252 SCV002707643 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-09-10 criteria provided, single submitter clinical testing The p.M546V variant (also known as c.1636A>G), located in coding exon 14 of the NF1 gene, results from an A to G substitution at nucleotide position 1636. The methionine at codon 546 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003461464 SCV004198327 uncertain significance Juvenile myelomonocytic leukemia 2023-09-06 criteria provided, single submitter clinical testing

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