ClinVar Miner

Submissions for variant NM_015981.4(CAMK2A):c.270C>T (p.Asp90=)

dbSNP: rs1464070393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839226 SCV002099185 uncertain significance Intellectual disability, autosomal dominant 53 2021-08-05 criteria provided, single submitter clinical testing The inherited heterozygous c.270C>T (p.Asp90=) synonymous variant identified in the CAMK2A gene has not been reported in affected individuals in the literature. This synonymous variant in exon4 is located just two nucleotides away from the exon/intron splice junction. In silico tools provide conflicting predictions about potential effect of this variant on CAMK2A mRNA splicing [TRAP score = 0.932 (deleterious), SpliceAI score = 0.01 (benign)]. The variant is absent from gnomAD(v3) database suggesting it is not a common benign variant in the populations represented in that database. Based on the available evidence, the inherited heterozygous c.270C>T (p.Asp90=) variant identified in the CAMK2A gene is reported as a variant of uncertain significance.

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