ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.38T>C (p.Val13Ala)

dbSNP: rs1911556061
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036626 SCV001199999 uncertain significance Neurofibromatosis, type 1 2023-05-31 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 835685). 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 valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 13 of the NF1 protein (p.Val13Ala).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001036626 SCV001479179 uncertain significance Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001036626 SCV002561391 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV002298852 SCV002588198 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002363551 SCV002623918 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-10-04 criteria provided, single submitter clinical testing The p.V13A variant (also known as c.38T>C), located in coding exon 1 of the NF1 gene, results from a T to C substitution at nucleotide position 38. The valine at codon 13 is replaced by alanine, 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.

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