ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7864G>C (p.Val2622Leu)

dbSNP: rs1471144465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002434407 SCV001189286 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-01-31 criteria provided, single submitter clinical testing The p.V2601L variant (also known as c.7801G>C), located in coding exon 52 of the NF1 gene, results from a G to C substitution at nucleotide position 7801. The valine at codon 2601 is replaced by leucine, 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.
Invitae RCV001862385 SCV002301764 uncertain significance Neurofibromatosis, type 1 2023-03-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2601 of the NF1 protein (p.Val2601Leu). 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: 827264). 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).
Genome-Nilou Lab RCV001862385 SCV002561147 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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