ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7971-8del (rs564545012)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000589144 SCV000572177 likely benign not provided 2018-05-23 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000481255 SCV000604455 benign not specified 2018-09-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589144 SCV000696409 benign not provided 2017-11-22 criteria provided, single submitter clinical testing Variant summary: The NF1 c.7908-8delT variant involves the alteration of a non-conserved nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 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 112/30766 control chromosomes (2 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.012552 (109/8684). This frequency is about 60 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 African origin. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290824 SCV001478990 benign Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing

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