Submissions for variant m.7471delC

dbSNP: rs111033319

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035052	SCV000058692	uncertain significance	not specified	2011-03-03	criteria provided, single submitter	clinical testing	The 7471delC variant in MTTS1 has not been reported in the literature nor previo usly identified by our laboratory. However, this deletion of a cytosine (C) nucl eotide occurs within a stretch of 6 cytosine nucleotides and a similar variant ( 7471_7472insC) resulting in an insertion of a cytosine in this same stretch of c ytosine residues has been previously reported in individuals with both nonsyndro mic and syndromic hearing loss (Tiranti 1995, Ensink 1998, Jaksch 1998, Verhoeve n 1999, Hutchin 2001). However, the 7471delC may have a different affect than th e 7471_7472insC variant on the MTTS1 gene. In summary, the clinical significance of this variant cannot be determined with certainty at this time.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000850891	SCV000993125	benign	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	2019-07-12	criteria provided, single submitter	clinical testing	The NC_012920.1:m.7471delC variant in MT-TS1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4