ClinVar Miner

Submissions for variant NM_001330.5(CTF1):c.591C>G (p.Pro197=)

gnomAD frequency: 0.00208  dbSNP: rs397516652
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037158 SCV000060815 benign not specified 2014-12-22 criteria provided, single submitter clinical testing p.Pro197Pro in exon 3 of CTF1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.9% (28/3168) of Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs397516652)
Labcorp Genetics (formerly Invitae), Labcorp RCV000335766 SCV000659711 likely benign Dilated Cardiomyopathy, Dominant 2024-01-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770522 SCV000901968 benign Cardiomyopathy 2017-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037158 SCV000919252 benign not specified 2018-10-15 criteria provided, single submitter clinical testing Variant summary: CTF1 c.591C>G results in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0018 in 131558 control chromosomes (gnomAD). The observed variant frequency is approximately 72-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in CTF1 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.591C>G in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant once as uncertain significance and once as likely benign. Based on the evidence outlined above, the variant was classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV004703194 SCV005215807 likely benign not provided criteria provided, single submitter not provided

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