ClinVar Miner

Submissions for variant NM_172364.5(CACNA2D4):c.593T>A (p.Leu198Gln)

gnomAD frequency: 0.00011  dbSNP: rs200563551
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000277857 SCV000377280 uncertain significance Cone dystrophy 3 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001300733 SCV001489882 uncertain significance not provided 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 198 of the CACNA2D4 protein (p.Leu198Gln). This variant is present in population databases (rs200563551, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CACNA2D4-related conditions. ClinVar contains an entry for this variant (Variation ID: 307869). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002520802 SCV003573881 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.593T>A (p.L198Q) alteration is located in exon 5 (coding exon 5) of the CACNA2D4 gene. This alteration results from a T to A substitution at nucleotide position 593, causing the leucine (L) at amino acid position 198 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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