Submissions for variant NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu)

gnomAD frequency: 0.00147  dbSNP: rs187273709

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000260475	SCV000467159	likely benign	Premature ovarian failure 5	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Eurofins Ntd Llc (ga)	RCV000598193	SCV000706966	uncertain significance	not provided	2017-04-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000598193	SCV004034941	uncertain significance	not provided	2023-03-10	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003970054	SCV004781865	benign	NOBOX-related disorder	2020-01-24	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).