ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3185A>T (p.Lys1062Ile)

dbSNP: rs1314168961
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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 RCV002315706 SCV000663121 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-07-01 criteria provided, single submitter clinical testing The p.K1062I variant (also known as c.3185A>T), located in coding exon 24 of the NF1 gene, results from an A to T substitution at nucleotide position 3185. The lysine at codon 1062 is replaced by isoleucine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001320917 SCV001511725 uncertain significance Neurofibromatosis, type 1 2024-06-28 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 1062 of the NF1 protein (p.Lys1062Ile). 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: 480112). 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.
Genome-Nilou Lab RCV001320917 SCV002560273 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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