ClinVar Miner

Submissions for variant NM_032040.5(CCDC8):c.818C>T (p.Ser273Phe)

gnomAD frequency: 0.00004  dbSNP: rs145652080
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001007938 SCV001167651 uncertain significance Immunodeficiency 2018-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860581 SCV002125957 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 273 of the CCDC8 protein (p.Ser273Phe). This variant is present in population databases (rs145652080, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CCDC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 816924). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002549274 SCV003694480 uncertain significance Inborn genetic diseases 2021-09-30 criteria provided, single submitter clinical testing The c.818C>T (p.S273F) alteration is located in exon 1 (coding exon 1) of the CCDC8 gene. This alteration results from a C to T substitution at nucleotide position 818, causing the serine (S) at amino acid position 273 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001860581 SCV005194686 uncertain significance not provided criteria provided, single submitter not provided

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