Submissions for variant NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)

dbSNP: rs144178015

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199205	SCV000254516	likely benign	Neurofibromatosis, type 1	2024-04-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311310	SCV000662806	uncertain significance	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2021-03-19	criteria provided, single submitter	clinical testing	The c.8159C>T (p.T2720M) alteration is located in exon 56 (coding exon 56) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 8159, causing the threonine (T) at amino acid position 2720 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000996522	SCV001151266	uncertain significance	not provided	2019-02-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001292741	SCV001481379	uncertain significance	Juvenile myelomonocytic leukemia	2019-11-08	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab	RCV000199205	SCV002561188	uncertain significance	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000996522	SCV005624671	uncertain significance	not provided	2024-01-17	criteria provided, single submitter	clinical testing