ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.1165A>G (p.Thr389Ala)

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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 RCV004117758 SCV003585812 uncertain significance not specified 2021-11-15 criteria provided, single submitter clinical testing The c.1165A>G (p.T389A) alteration is located in exon 12 (coding exon 9) of the CEP250 gene. This alteration results from a A to G substitution at nucleotide position 1165, causing the threonine (T) at amino acid position 389 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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