ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.794C>T (p.Ala265Val)

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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 RCV002416856 SCV002681125 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-02-11 criteria provided, single submitter clinical testing The p.A265V variant (also known as c.794C>T), located in coding exon 8 of the NF1 gene, results from a C to T substitution at nucleotide position 794. The alanine at codon 265 is replaced by valine, an amino acid with 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 RCV003776461 SCV004625362 uncertain significance Neurofibromatosis, type 1 2023-02-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1761352). 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 alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 265 of the NF1 protein (p.Ala265Val). 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. 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.

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