ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.7469C>T (p.Ser2490Leu)

gnomAD frequency: 0.00003  dbSNP: rs530430600
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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 RCV003144982 SCV003830665 uncertain significance Intellectual disability, autosomal dominant 45 2021-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004963584 SCV005559361 uncertain significance Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing The c.4742C>T (p.S1581L) alteration is located in exon 20 (coding exon 20) of the CIC gene. This alteration results from a C to T substitution at nucleotide position 4742, causing the serine (S) at amino acid position 1581 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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