Submissions for variant NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)

gnomAD frequency: 0.00016  dbSNP: rs587669420

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001699229	SCV000252343	likely benign	not provided	2021-03-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32380162)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000699472	SCV000828185	likely benign	Leigh syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000699472	SCV001329882	uncertain significance	Leigh syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Clinical Genetics, Academic Medical Center	RCV001699229	SCV001921655	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699229	SCV001926750	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699229	SCV001971007	uncertain significance	not provided		no assertion criteria provided	clinical testing