ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.3260A>G (p.Gln1087Arg)

gnomAD frequency: 0.00001  dbSNP: rs1041975486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308403 SCV001497852 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034169 SCV003952141 uncertain significance not specified 2023-04-25 criteria provided, single submitter clinical testing The c.3260A>G (p.Q1087R) alteration is located in exon 25 (coding exon 22) of the CEP250 gene. This alteration results from a A to G substitution at nucleotide position 3260, causing the glutamine (Q) at amino acid position 1087 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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