ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5229T>C (p.Ala1743=)

gnomAD frequency: 0.00001  dbSNP: rs876657546
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215422 SCV000270624 likely benign not specified 2016-01-15 criteria provided, single submitter clinical testing p.Ala1743Ala 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.
Ambry Genetics RCV000222838 SCV000273752 likely benign Hereditary cancer-predisposing syndrome 2015-01-26 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 RCV000459577 SCV000554872 likely benign Neurofibromatosis, type 1 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001567364 SCV001791029 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000459577 SCV002560809 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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