ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.4241C>T (p.Ala1414Val)

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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 RCV004178833 SCV003657913 uncertain significance not specified 2022-12-01 criteria provided, single submitter clinical testing The c.4241C>T (p.A1414V) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a C to T substitution at nucleotide position 4241, causing the alanine (A) at amino acid position 1414 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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