ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.4870G>C (p.Glu1624Gln)

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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 RCV004436165 SCV004925221 uncertain significance not specified 2024-03-07 criteria provided, single submitter clinical testing The c.4870G>C (p.E1624Q) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a G to C substitution at nucleotide position 4870, causing the glutamic acid (E) at amino acid position 1624 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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