ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)

dbSNP: rs587781791
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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 RCV000130048 SCV000184875 uncertain significance Hereditary cancer-predisposing syndrome 2014-02-26 criteria provided, single submitter clinical testing The p.P2655T variant (also known as c.7963C>A) is located in coding exon 54 of the NF1 gene. This alteration results from a C to A substitution at nucleotide position 7963. The proline at codon 2655 is replaced by threonine, an amino acid with a few highly 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.To date, this alteration has been detected with an allele frequency of approximately 0.66% (greater than 150 alleles tested) in our clinical cohort (includes this individual). Based on protein sequence alignment, this amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and deleterious by PolyPhen and SIFT in silicoanalyses, respectively.Since supporting evidence is limited at this time, the clinical significance ofp.P2655Tremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001057636 SCV001222139 likely benign Neurofibromatosis, type 1 2024-09-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV001057636 SCV002096973 uncertain significance Neurofibromatosis, type 1 2022-01-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001057636 SCV002561163 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV003225030 SCV003921301 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 25486365)
Baylor Genetics RCV003460908 SCV004198363 uncertain significance Juvenile myelomonocytic leukemia 2023-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558328 SCV005048639 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-03 criteria provided, single submitter clinical testing The c.7900C>A (p.P2634T) alteration is located in exon 53 (coding exon 53) of the NF1 gene. This alteration results from a C to A substitution at nucleotide position 7900, causing the proline (P) at amino acid position 2634 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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