ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala)

gnomAD frequency: 0.00017  dbSNP: rs56699807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878300 SCV001021181 benign Nephronophthisis 15 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536792 SCV003711068 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.2920A>G (p.T974A) alteration is located in exon 24 (coding exon 22) of the CEP164 gene. This alteration results from a A to G substitution at nucleotide position 2920, causing the threonine (T) at amino acid position 974 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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