ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)

dbSNP: rs1555614350
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316641 SCV000666774 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-04 criteria provided, single submitter clinical testing The p.S942T variant (also known as c.2825G>C), located in coding exon 21 of the NF1 gene, results from a G to C substitution at nucleotide position 2825. The serine at codon 942 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000695693 SCV000824208 likely benign Neurofibromatosis, type 1 2024-11-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000695693 SCV002562098 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465205 SCV004190700 uncertain significance Juvenile myelomonocytic leukemia 2024-02-05 criteria provided, single submitter clinical testing

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