ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.215T>C (p.Val72Ala)

dbSNP: rs1260510937
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689963 SCV000817636 uncertain significance Neurofibromatosis, type 2 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 72 of the NF2 protein (p.Val72Ala). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 569354). 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 NF2 protein function with a negative predictive value of 80%. 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.
Mendelics RCV000689963 SCV000839511 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765628 SCV000896953 uncertain significance Familial meningioma; Neurofibromatosis, type 2; Schwannomatosis 1 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014488 SCV001175202 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-18 criteria provided, single submitter clinical testing The p.V72A variant (also known as c.215T>C), located in coding exon 2 of the NF2 gene, results from a T to C substitution at nucleotide position 215. The valine at codon 72 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Illumina Laboratory Services, Illumina RCV000689963 SCV001308953 uncertain significance Neurofibromatosis, type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000689963 SCV002044839 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000689963 SCV003815870 uncertain significance Neurofibromatosis, type 2 2022-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424281 SCV004154848 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing NF2: PM2
Baylor Genetics RCV003465572 SCV004199037 uncertain significance Familial meningioma 2023-10-09 criteria provided, single submitter clinical testing

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