ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5192A>C (p.Lys1731Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004614911 SCV005105339 uncertain significance Inborn genetic diseases 2024-04-27 criteria provided, single submitter clinical testing The c.5192A>C (p.K1731T) alteration is located in exon 38 (coding exon 37) of the CEP290 gene. This alteration results from a A to C substitution at nucleotide position 5192, causing the lysine (K) at amino acid position 1731 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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