Submissions for variant NM_003850.3(SUCLA2):c.272-2A>G

dbSNP: rs565456094

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000265807	SCV000384519	uncertain significance	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	2017-04-27	criteria provided, single submitter	clinical testing	The SUCLA2 c.272-2A>G variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The c.272-2A>G variant is reported at a frequency of 0.00012 in the East Asian population of the Exome Aggregation Consortium but this is based on one allele only in a region of good sequence coverage so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice acceptor variants and the lack of clarifying evidence, this c.272-2A>G variant is classified as a variant of unknown significance, but suspicious for pathogenicity for mitochondrial DNA depletion syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Ambry Genetics	RCV001266387	SCV001444561	likely pathogenic	Inborn genetic diseases	2019-10-02	criteria provided, single submitter	clinical testing