ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)

gnomAD frequency: 0.00004  dbSNP: rs373563053
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129481 SCV000184251 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-09 criteria provided, single submitter clinical testing The p.K77N variant (also known as c.231A>T), located in coding exon 3 of the NF1 gene, results from an A to T substitution at nucleotide position 231. The lysine at codon 77 is replaced by asparagine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs373563053. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/13002) total alleles studied, having been observed in0.01% (1/8598) European American alleles. This variant was not reported in the 1000 Genomes Project population-based cohort.To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 55000 alleles tested) in our clinical cohort.This amino acid position is highly 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 p.K77Nremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000205241 SCV000260829 likely benign Neurofibromatosis, type 1 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001808397 SCV002056076 uncertain significance not provided 2024-08-20 criteria provided, single submitter clinical testing 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 RCV000205241 SCV002561422 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453460 SCV002735683 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-05-28 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 RCV002478386 SCV002790616 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-03-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001808397 SCV005624536 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing

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