ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5944-5A>G (rs267606604)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000387 SCV000259361 pathogenic Neurofibromatosis, type 1 2019-10-28 criteria provided, single submitter clinical testing This sequence change falls in intron 39 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in families and individuals with a clinical diagnosis or suspicion of neurofibromatosis type 1 (PMID: 7981692, 11704931, 10712197, 18546366, 24789688). This variant is also known as A47768>G and IVS31-5A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 359). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID:7981692, 11704931). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000572936 SCV000670372 pathogenic Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing Functionally-validated splicing mutation;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000000387 SCV000782069 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Medical Genomics Laboratory,Department of Genetics UAB RCV000000387 SCV001167431 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
OMIM RCV000000387 SCV000020531 pathogenic Neurofibromatosis, type 1 2001-12-01 no assertion criteria provided literature only
OMIM RCV000000388 SCV000020532 pathogenic Neurofibromatosis, familial spinal 2001-12-01 no assertion criteria provided literature only

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