ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.369C>G (p.Thr123=) (rs146691765)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163483 SCV000214040 likely benign Hereditary cancer-predisposing syndrome 2014-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000585903 SCV000808474 benign not provided 2018-04-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000366567 SCV000401685 likely benign Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271990 SCV000401686 likely benign Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308384 SCV000401687 likely benign Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000197180 SCV000401688 likely benign Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585903 SCV000696393 benign not provided 2017-08-21 criteria provided, single submitter clinical testing Variant summary: The NF1 c.369C>G (p.Thr123Thr) 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. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 107/121302 control chromosomes (2 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.012034 (104/8642). This frequency is about 58 times the estimated maximal expected allele frequency of a pathogenic NF1 variant (0.0002084), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. The variant was reported in patients in the literature who also carry truncating NF1 mutations, further supporting the benign nature of the variant of interest. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign.
Invitae RCV000197180 SCV000252683 benign Neurofibromatosis, type 1 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000253461 SCV000306260 benign not specified criteria provided, single submitter clinical testing

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