ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6575A>G (p.Tyr2192Cys)

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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 RCV003077460 SCV003462117 uncertain significance Neurofibromatosis, type 1 2024-11-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2171 of the NF1 protein (p.Tyr2171Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2153142). Invitae Evidence 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 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.
Ambry Genetics RCV004560031 SCV005048645 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-05-23 criteria provided, single submitter clinical testing The p.Y2171C variant (also known as c.6512A>G), located in coding exon 42 of the NF1 gene, results from an A to G substitution at nucleotide position 6512. The tyrosine at codon 2171 is replaced by cysteine, an amino acid with highly dissimilar 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.

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