ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe)

dbSNP: rs1555619407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319367 SCV001184768 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-09-29 criteria provided, single submitter clinical testing The p.S1578F variant (also known as c.4733C>T), located in coding exon 35 of the NF1 gene, results from a C to T substitution at nucleotide position 4733. The serine at codon 1578 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This alteration has been identified in an individual meeting the NIH criteria for a clinical diagnosis of neurofibromatosis type 1 (Bendova S et al. J. Mol. Neurosci. 2007;31:273-9). Based on internal structural analysis, this variant is more disruptive than known pathogenic variants (Welti S et al. Hum Mutat. 2011 Feb;32(2):191-7; Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290950 SCV001479281 uncertain significance Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467670 SCV004198423 uncertain significance Juvenile myelomonocytic leukemia 2023-07-08 criteria provided, single submitter clinical testing

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