ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.107A>G (p.Asn36Ser)

gnomAD frequency: 0.00014  dbSNP: rs372279458
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085689 SCV000284538 benign Neurofibromatosis, type 2 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564583 SCV000674122 likely benign Hereditary cancer-predisposing syndrome 2018-12-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000733228 SCV000861268 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
GeneDx RCV000733228 SCV001788035 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29618661, 32150022, 23975423, 25931164, 25925381, 16983642, 15684865, 24728327)
Genome-Nilou Lab RCV001085689 SCV002045393 likely benign Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000564583 SCV002528164 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-13 criteria provided, single submitter curation
Revvity Omics, Revvity Omics RCV001085689 SCV003815873 uncertain significance Neurofibromatosis, type 2 2020-04-03 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001085689 SCV003928057 uncertain significance Neurofibromatosis, type 2 2023-03-23 criteria provided, single submitter clinical testing The NF2 c.107A>G (p.Asn36Ser) missense change has a maximum subpopulation frequency of 0.029% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. This variant has been reported in an individual with a vestibular schwannoma (PMID: 15684865). In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Preventiongenetics, part of Exact Sciences RCV003398733 SCV004120477 uncertain significance NF2-related condition 2023-03-15 criteria provided, single submitter clinical testing The NF2 c.107A>G variant is predicted to result in the amino acid substitution p.Asn36Ser. This variant was previously described in one individual who presented with suspected neurofibromatosis type 2 (Wallace et al. 2004. PubMed ID: 15684865) and in a patient with a mild form of vestibular schwannomas (Heineman et al. 2015. PubMed ID: 25931164). However, this variant has also been reported in a cohort of presumably healthy individuals (Table S1 - Bodian et al. 2014. PubMed ID: 24728327). This variant is reported in 0.016% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-30000094-A-G) and has conflicting interpretations regarding its pathogenicity in ClinVar, ranging from benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/134892/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV000733228 SCV004154847 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing
ITMI RCV000121642 SCV000085840 not provided not specified 2013-09-19 no assertion provided reference population

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