Submissions for variant NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His)

gnomAD frequency: 0.00004  dbSNP: rs201947677

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000001138	SCV001325434	likely benign	Premature ovarian failure 5	2017-10-20	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV003320542	SCV004025469	uncertain significance	not provided	2023-02-10	criteria provided, single submitter	clinical testing	Reported in the heterozygous state in a patient with primary ovarian failure in published literature (Qin et al., 2007); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 31589614, 31293321, 17701902)
OMIM	RCV000001138	SCV000021288	pathogenic	Premature ovarian failure 5	2007-09-01	no assertion criteria provided	literature only
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University	RCV001659676	SCV001877158	pathogenic	Genetic non-acquired premature ovarian failure	2019-10-01	no assertion criteria provided	research