ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4944C>T (p.Thr1648=)

gnomAD frequency: 0.00001  dbSNP: rs759291615
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166411 SCV000217206 likely benign Hereditary cancer-predisposing syndrome 2014-10-15 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.
Invitae RCV001081438 SCV000554881 likely benign Neurofibromatosis, type 1 2024-01-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615249 SCV000712599 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing p.Thr1648Thr in exon 37 of NF1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/66730 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs759291615 ).
GeneDx RCV000681307 SCV000808769 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001081438 SCV002560787 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947431 SCV004764324 likely benign NF1-related condition 2019-11-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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