ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)

dbSNP: rs758691069
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166265 SCV000217046 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-23 criteria provided, single submitter clinical testing The p.P678T variant (also known as c.2032C>A), located in coding exon 18 of the NF1 gene, results from a C to A substitution at nucleotide position 2032. The proline at codon 678 is replaced by threonine, an amino acid with 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. 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 0.01% (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.P678T remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000200062 SCV000254485 benign Neurofibromatosis, type 1 2024-01-17 criteria provided, single submitter clinical testing
Mendelics RCV000200062 SCV000839135 uncertain significance Neurofibromatosis, type 1 2018-07-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000200062 SCV002561986 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558389 SCV005047584 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-11-09 criteria provided, single submitter clinical testing The c.2032C>A (p.P678T) alteration is located in exon 18 (coding exon 18) of the NF1 gene. This alteration results from a C to A substitution at nucleotide position 2032, causing the proline (P) at amino acid position 678 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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