Submissions for variant NM_001042492.3(NF1):c.987A>G (p.Lys329=)

dbSNP: rs2066508210

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001238722	SCV001411550	pathogenic	Neurofibromatosis, type 1	2024-01-02	criteria provided, single submitter	clinical testing	This sequence change affects codon 329 of the NF1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis, type 1 (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 964493). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001238722	SCV001479079	uncertain significance	Neurofibromatosis, type 1	2020-10-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001238722	SCV002561855	uncertain significance	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV001238722	SCV004810043	uncertain significance	Neurofibromatosis, type 1	2024-04-04	criteria provided, single submitter	clinical testing