Submissions for variant NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter)

dbSNP: rs2141079375

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001586504	SCV001813017	pathogenic	not provided	2020-01-21	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32623730, 30968679)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001586504	SCV002190497	pathogenic	not provided	2020-12-13	criteria provided, single submitter	clinical testing	This variant has been observed in individual(s) with aromatase deficiency (PMID: 30968679). This sequence change creates a premature translational stop signal (p.Arg115*) in the CYP19A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP19A1 are known to be pathogenic (PMID: 14602738, 27086564, 27256151). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV001832802	SCV003924361	pathogenic	Aromatase deficiency	2023-05-08	criteria provided, single submitter	research
Natera, Inc.	RCV001832802	SCV002085574	pathogenic	Aromatase deficiency	2020-12-02	no assertion criteria provided	clinical testing