ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1439C>T (p.Thr480Met)

gnomAD frequency: 0.00013  dbSNP: rs145666157
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361452 SCV000437755 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000361452 SCV000553669 benign Neurofibromatosis, type 2 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011579 SCV001171916 likely benign Hereditary cancer-predisposing syndrome 2020-09-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Baylor Genetics RCV000361452 SCV001481719 uncertain significance Neurofibromatosis, type 2 2019-07-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000361452 SCV002045412 likely benign Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001011579 SCV002528181 benign Hereditary cancer-predisposing syndrome 2021-06-14 criteria provided, single submitter curation
Color Diagnostics, LLC DBA Color Health RCV000361452 SCV004357041 likely benign Neurofibromatosis, type 2 2022-03-09 criteria provided, single submitter clinical testing

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