ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2519G>T (p.Arg840Leu)

dbSNP: rs201901144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000883215 SCV001026503 likely benign Nephronophthisis 15 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539315 SCV003662870 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.2519G>T (p.R840L) alteration is located in exon 20 (coding exon 18) of the CEP164 gene. This alteration results from a G to T substitution at nucleotide position 2519, causing the arginine (R) at amino acid position 840 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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