Submissions for variant NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)

gnomAD frequency: 0.00005  dbSNP: rs751809412

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000591569	SCV000707124	uncertain significance	not provided	2018-07-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001482684	SCV001687058	likely benign	Alagille syndrome due to a JAG1 point mutation	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002438541	SCV002746045	uncertain significance	Cardiovascular phenotype	2024-06-10	criteria provided, single submitter	clinical testing	The c.2927C>T (p.T976M) alteration is located in exon 24 (coding exon 24) of the JAG1 gene. This alteration results from a C to T substitution at nucleotide position 2927, causing the threonine (T) at amino acid position 976 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic	RCV000591569	SCV005410034	uncertain significance	not provided	2024-07-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004740358	SCV005350074	uncertain significance	JAG1-related disorder	2024-08-09	no assertion criteria provided	clinical testing	The JAG1 c.2927C>T variant is predicted to result in the amino acid substitution p.Thr976Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.