ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del)

dbSNP: rs757172314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462994 SCV000553025 uncertain significance Long QT syndrome 2024-10-31 criteria provided, single submitter clinical testing This variant, c.5622_5624del, results in the deletion of 1 amino acid(s) of the CACNA1C protein (p.Glu1874del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs757172314, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 411730). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV001764446 SCV001989125 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of one amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002489084 SCV002785828 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298505 SCV003996938 uncertain significance Cardiovascular phenotype 2023-06-15 criteria provided, single submitter clinical testing The c.5622_5624delGGA variant (also known as p.E1874del) is located in coding exon 44 of the CACNA1C gene. This variant results from an in-frame GGA deletion at nucleotide positions 5622 to 5624. This results in the in-frame deletion of a glutamic acid at codon 1874. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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