ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)

dbSNP: rs1135402896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314853 SCV000663256 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-05-24 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781658 SCV000919873 uncertain significance not specified 2017-09-19 criteria provided, single submitter clinical testing Variant summary: The NF1 c.6915T>C (p.Asp2305Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SF2/ASF. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 246250 control chromosomes. In addition, one clinical diagnostic laboratory classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000497184 SCV001629596 likely benign Neurofibromatosis, type 1 2023-05-30 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000497184 SCV000588828 uncertain significance Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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