ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.5161C>T (p.Arg1721Cys)

gnomAD frequency: 0.00092  dbSNP: rs754782740
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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 RCV001462601 SCV001666521 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038613 SCV004051057 uncertain significance not specified 2023-08-22 criteria provided, single submitter clinical testing The c.5161C>T (p.R1721C) 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 5161, causing the arginine (R) at amino acid position 1721 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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