ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.3236+3G>A

gnomAD frequency: 0.00019  dbSNP: rs199932603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001323875 SCV001514810 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the CACNA1F gene. It does not directly change the encoded amino acid sequence of the CACNA1F protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199932603, gnomAD 0.02%). This variant has been observed in individual(s) with macular dystrophy (PMID: 30718709). ClinVar contains an entry for this variant (Variation ID: 636158). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 RCV001323875 SCV001773095 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787803 SCV000926813 uncertain significance Macular dystrophy 2018-04-01 no assertion criteria provided research

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