ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6056C>T (p.Ala2019Val)

dbSNP: rs1567616673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701437 SCV000830238 uncertain significance Neurofibromatosis, type 1 2020-06-09 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 578431). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 1998 of the NF1 protein (p.Ala1998Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Ambry Genetics RCV002343534 SCV001186846 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-05-02 criteria provided, single submitter clinical testing The p.A1998V variant (also known as c.5993C>T), located in coding exon 40 of the NF1 gene, results from a C to T substitution at nucleotide position 5993. The alanine at codon 1998 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.
Genome-Nilou Lab RCV000701437 SCV002560930 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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