Submissions for variant NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)

dbSNP: rs1734829878

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001385763	SCV001585725	pathogenic	Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5	2020-08-11	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). This variant has not been reported in the literature in individuals with SDHA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln27*) in the SDHA gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics	RCV002420861	SCV002678617	pathogenic	Hereditary cancer-predisposing syndrome	2020-05-22	criteria provided, single submitter	clinical testing	The p.Q27* pathogenic mutation (also known as c.79C>T), located in coding exon 2 of the SDHA gene, results from a C to T substitution at nucleotide position 79. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.