ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.637A>G (p.Ile213Val)

dbSNP: rs2066132329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067982 SCV001233069 uncertain significance Neurofibromatosis, type 1 2023-07-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF1-related conditions. 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: 861456). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 213 of the NF1 protein (p.Ile213Val).
Ambry Genetics RCV004994238 SCV005451927 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-06-27 criteria provided, single submitter clinical testing The p.I213V variant (also known as c.637A>G), located in coding exon 6 of the NF1 gene, results from an A to G substitution at nucleotide position 637. The isoleucine at codon 213 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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