ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2795T>C (p.Met932Thr)

gnomAD frequency: 0.00001  dbSNP: rs876659779
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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 RCV000217452 SCV000276599 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-26 criteria provided, single submitter clinical testing The p.M932T variant (also known as c.2795T>C), located in coding exon 21 of the NF1 gene, results from a T to C substitution at nucleotide position 2795. The methionine at codon 932 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 than55000alleles tested) in our clinical cohort.This amino acid position is highly conserved in available vertebrate 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.M932Tremains unclear.
Sema4, Sema4 RCV000217452 SCV002527477 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-06 criteria provided, single submitter curation
Ambry Genetics RCV003165572 SCV003895129 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-11-01 criteria provided, single submitter clinical testing The c.2795T>C (p.M932T) alteration is located in exon 21 (coding exon 21) of the NF1 gene. This alteration results from a T to C substitution at nucleotide position 2795, causing the methionine (M) at amino acid position 932 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003462498 SCV004198349 uncertain significance Juvenile myelomonocytic leukemia 2023-08-25 criteria provided, single submitter clinical testing

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