ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1140T>C (p.His380=)

gnomAD frequency: 0.00010  dbSNP: rs151199943
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247502 SCV000320138 likely benign Cardiovascular phenotype 2015-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000586204 SCV000532734 likely benign not provided 2019-08-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586204 SCV000700057 benign not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The c.978T>C variant affects a non-conserved nucleotide, resulting in a synonymous change. 4/5 splice-tools in Alamut predict that this variant does not affect normal splicing. ESE finder predicts changes of binding motifs for splicing enhancers. However, these predictions have not been validated via functional studies. This variant is found in 5/121384 control chromosomes at a frequency of 0.0000412, which is about 4 times of the maximal expected frequency of a pathogenic allele (0.00001), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086312 SCV001005169 likely benign Brugada syndrome 4 2024-01-17 criteria provided, single submitter clinical testing

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