ClinVar Miner

Submissions for variant NM_172364.5(CACNA2D4):c.2958C>G (p.Tyr986Ter)

dbSNP: rs142964907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327655 SCV001518740 uncertain significance not provided 2020-03-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr986*) in the CACNA2D4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs142964907, ExAC 0.02%). This variant has not been reported in the literature in individuals with CACNA2D4-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA2D4 cause disease. 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.
Revvity Omics, Revvity RCV001780249 SCV002025044 likely pathogenic Retinal cone dystrophy 4 2019-06-21 criteria provided, single submitter clinical testing

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