ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.6237C>T (p.Gly2079=)

gnomAD frequency: 0.00016  dbSNP: rs199525864
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000423736 SCV000511723 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV000423736 SCV001155872 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000423736 SCV003475682 uncertain significance not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change affects codon 2079 of the CACNA1B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1B protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CACNA1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 377312). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000423736 SCV005331616 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 28719003, 26740555)

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