Submissions for variant NM_003172.4(SURF1):c.280T>C (p.Leu94=)

gnomAD frequency: 0.04975  dbSNP: rs28615629

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128340	SCV000171933	benign	not specified	2011-07-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000359434	SCV000478293	likely benign	Leigh syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000359434	SCV000627063	benign	Leigh syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000128340	SCV000918301	benign	not specified	2017-12-18	criteria provided, single submitter	clinical testing	Variant summary: The SURF1 c.280T>C (p.Leu94Leu) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing and ESE sites at the locus are not predicted to be affected. However, these predictions have yet to be confirmed by functional studies. This variant was found in 10613/277080 control chromosomes (258 homozygotes) at a frequency of 0.038303, which is approximately 22 times the estimated maximal expected allele frequency of a pathogenic SURF1 variant (0.0017678), strongly suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign or benign. Taken together, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic	RCV000676734	SCV000802535	benign	not provided	2016-02-25	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000128340	SCV001919550	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000128340	SCV001957263	benign	not specified		no assertion criteria provided	clinical testing