ClinVar Miner

Submissions for variant NM_172364.5(CACNA2D4):c.846C>G (p.Tyr282Ter)

dbSNP: rs776513970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780711 SCV002025045 likely pathogenic Retinal cone dystrophy 4 2019-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541176 SCV003224357 uncertain significance not provided 2022-07-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1324006). This variant has not been reported in the literature in individuals affected with CACNA2D4-related conditions. This variant is present in population databases (rs776513970, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Tyr282*) in the CACNA2D4 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA2D4 cause disease.

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