ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7402A>G (p.Met2468Val)

gnomAD frequency: 0.00001  dbSNP: rs151211377
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543997 SCV000628777 likely benign Neurofibromatosis, type 1 2024-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565472 SCV000670422 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-28 criteria provided, single submitter clinical testing The p.M2468V variant (also known as c.7402A>G), located in coding exon 50 of the NF1 gene, results from an A to G substitution at nucleotide position 7402. The methionine at codon 2468 is replaced by valine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs151211377. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.02% (2/13006) total alleles studied, having been observed in 0.05% (2/4406) African American alleles. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 110000alleles tested) in our clinical cohort.This amino acid position is highly conserved in available vertebrate species. However, this alteration is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively.Since supporting evidence is limited at this time, the clinical significance of this alterationremains unclear.
GeneDx RCV001562519 SCV001785295 uncertain significance not provided 2021-06-21 criteria provided, single submitter clinical testing 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
Genome-Nilou Lab RCV000543997 SCV002561070 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559163 SCV005048770 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-08-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV005010492 SCV005639963 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-05-14 criteria provided, single submitter clinical testing

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