ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7837C>A (p.Pro2613Thr)

dbSNP: rs138839077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002434404 SCV001189250 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-03-14 criteria provided, single submitter clinical testing The p.P2592T variant (also known as c.7774C>A), located in coding exon 52 of the NF1 gene, results from a C to A substitution at nucleotide position 7774. The proline at codon 2592 is replaced by threonine, an amino acid with highly similar properties. 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 this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002551982 SCV003473202 uncertain significance Neurofibromatosis, type 1 2022-12-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 827250). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2592 of the NF1 protein (p.Pro2592Thr).

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