Submissions for variant m.961T>G

dbSNP: rs3888511

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035062	SCV000058702	likely benign	not specified	2015-02-06	criteria provided, single submitter	clinical testing	m.961T>G in MTRNR1: This variant is not expected to have clinical significance b ecause it has been reported in phylogenetic studies with a haplogroup-specific f requency in central Europeans of 98% (http://mitomap.org/MITOMAP, http://www.mtd b.igp.uu.se). Several studies have associated this variant with maternally inher ited hearing loss (Li 2004, Yelverton 2013). However, other studies have identif ied this variant as common in the general population with similar frequencies am ong hearing loss patients and controls (0.2% ? 3%) (Bardien 2009, Elstner 2008, Konings 2008, Rydzanicz 2010; 6 observations in the LOVD database http://www.lov d.nl/2.0; 0.2% (5/2704) in mtDB http://www.mtdb.igp.uu.se; 1% in HmtDB http://ww w.hmtdb.uniba.it:8080/hmdb). In addition, in one study there was no difference o bserved in the mitochondrial translation products with the m.961T>G mutation com pared to controls (Elstner 2008). Moreover, this region of mitochondrial DNA is not evolutionarily conserved and its function is not well defined. Of note, chic ken has guanine at position m.961 (Konings 2008). One study of cystic fibrosis a dult patients did not observe a correlation between this variant and aminoglycos ide ototoxicity (Conrad 2008). In summary, the current data for this variant sup ports a likely benign role.
OMIM	RCV000010264	SCV000030488	pathogenic	Mitochondrial non-syndromic sensorineural hearing loss	2004-08-01	no assertion criteria provided	literature only
GeneReviews	RCV000010264	SCV000172232	uncertain significance	Mitochondrial non-syndromic sensorineural hearing loss	2018-06-14	no assertion criteria provided	literature only