ClinVar Miner

Submissions for variant NM_025004.3(CCDC15):c.541C>T (p.Arg181Cys)

gnomAD frequency: 0.00023  dbSNP: rs141915356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004228650 SCV003737049 uncertain significance not specified 2024-06-26 criteria provided, single submitter clinical testing The c.541C>T (p.R181C) alteration is located in exon 5 (coding exon 4) of the CCDC15 gene. This alteration results from a C to T substitution at nucleotide position 541, causing the arginine (R) at amino acid position 181 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV004587462 SCV005077898 uncertain significance Neurodevelopmental disorder 2024-06-19 criteria provided, single submitter curation The p.Arg181Cys variant in CCDC15 was identified by our study, in the compound heterozygous state along with another variant of uncertain significance, in 1 individual with a neurodevelopmental disorder. While this gene is still lacking sufficient evidence to establish a gene-disease relationship, we believe this is a possible novel gene candidate for neurodevelopmental disorders. Given the limited information about this gene-disease relationship, the significance of the p.Arg181Cys variant is uncertain. If you have any additional information about functional evidence or other individuals with this phenotype that also have variants in CCDC15 we encourage you to reach out to us.

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