ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr)

dbSNP: rs377295676
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216267 SCV000277008 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-14 criteria provided, single submitter clinical testing The p.H1460Y variant (also known as c.4378C>T), located in coding exon 33 of the NF1 gene, results from a C to T substitution at nucleotide position 4378. The histidine at codon 1460 is replaced by tyrosine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs377295676. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/13004) total alleles studied and 0.01% (1/8600) European American alleles. <span style="font-family:arial,sans-serif; font-size:9pt">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 0.002% (greater than 55,000 alleles tested) in our clinical cohort.This amino acid position is well conserved in available vertebrate species, however tyrosine is the reference amino acid in three species. In addition, the in silico prediction for this alteration is inconclusive.Since supporting evidence is limited at this time, the clinical significance of p.H1460Y remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000462406 SCV000541965 benign Neurofibromatosis, type 1 2024-06-17 criteria provided, single submitter clinical testing
GeneDx RCV001785523 SCV002028167 uncertain significance not provided 2021-05-17 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 RCV000462406 SCV002560414 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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