ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.543C>T (p.Phe181=)

gnomAD frequency: 0.01036  dbSNP: rs62637580
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196556 SCV000252342 benign not specified 2011-07-05 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 RCV000353708 SCV000478290 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000353708 SCV000627069 benign Leigh syndrome 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590784 SCV000698179 benign not provided 2016-04-05 criteria provided, single submitter clinical testing Variant summary: The c.543C>T in SURF1 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 2%, primarily in individuals of East Asian descent (~26%), including numerous homozygous occurrences. The observed frequency exceeds the maximum expected allele frequency for a pathogenic SURF1 variant, suggesting that it is a common polymorphism. In addition, the variant has been reported as Benign by reputable database/clinical laboratory. Taken together, this variant has been classified as Benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000590784 SCV000802534 benign not provided 2016-02-29 no assertion criteria provided clinical testing

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