ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.3499G>T (p.Ala1167Ser)

gnomAD frequency: 0.00003  dbSNP: rs201801448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002146094 SCV002456710 benign not provided 2023-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046628 SCV004925214 uncertain significance not specified 2023-12-15 criteria provided, single submitter clinical testing The c.3499G>T (p.A1167S) alteration is located in exon 26 (coding exon 23) of the CEP250 gene. This alteration results from a G to T substitution at nucleotide position 3499, causing the alanine (A) at amino acid position 1167 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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