ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1700T>C (p.Val567Ala)

dbSNP: rs2144004648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045406 SCV002293207 uncertain significance Neurofibromatosis, type 1 2021-07-03 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. This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 567 of the NF1 protein (p.Val567Ala). The valine residue is weakly conserved and there is a small physicochemical difference between valine and alanine.
Ambry Genetics RCV002398092 SCV002714150 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-08-23 criteria provided, single submitter clinical testing The p.V567A variant (also known as c.1700T>C), located in coding exon 15 of the NF1 gene, results from a T to C substitution at nucleotide position 1700. The valine at codon 567 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004553627 SCV004117858 uncertain significance NF1-related disorder 2022-11-30 criteria provided, single submitter clinical testing The NF1 c.1700T>C variant is predicted to result in the amino acid substitution p.Val567Ala. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV004779246 SCV005389959 uncertain significance not provided 2024-04-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365)

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