ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr)

dbSNP: rs876659801
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217912 SCV000276639 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing The p.M1271T variant (also known as c.3812T>C), located in coding exon 28 of the NF1 gene, results from a T to C substitution at nucleotide position 3812. The methionine at codon 1271 is replaced by threonine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position.To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 55000alleles tested) in our clinical cohort.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 p.M1271Tremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000468737 SCV000541977 likely benign Neurofibromatosis, type 1 2024-12-25 criteria provided, single submitter clinical testing
GeneDx RCV001582751 SCV001820811 uncertain significance not provided 2020-06-12 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 RCV000468737 SCV002560334 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558536 SCV005047737 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-07-28 criteria provided, single submitter clinical testing The c.3812T>C (p.M1271T) alteration is located in exon 28 (coding exon 28) of the NF1 gene. This alteration results from a T to C substitution at nucleotide position 3812, causing the methionine (M) at amino acid position 1271 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004567603 SCV005052209 uncertain significance Juvenile myelomonocytic leukemia 2024-02-29 criteria provided, single submitter clinical testing

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