ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.2073+5G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002422169 SCV002729789 uncertain significance Inborn genetic diseases 2018-03-16 criteria provided, single submitter clinical testing The c.2073+5G>T intronic variant results from a G to T substitution 5 nucleotides after coding exon 19 in the CC2D1A gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004559543 SCV005049383 uncertain significance Intellectual disability, autosomal recessive 3 2024-02-06 criteria provided, single submitter clinical testing

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