ClinVar Miner

Submissions for variant NM_177965.4(CFAP418):c.606G>A (p.Trp202Ter)

gnomAD frequency: 0.00001  dbSNP: rs1472751695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213613 SCV001385250 pathogenic not provided 2022-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 943429). This premature translational stop signal has been observed in individuals with clinical features of inherited retinal dystrophy (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Trp202*) in the C8orf37 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the C8orf37 protein.
GeneDx RCV001213613 SCV001993962 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004756190 SCV005363428 uncertain significance CFAP418-related disorder 2024-08-30 no assertion criteria provided clinical testing The CFAP418 c.606G>A variant is predicted to result in premature protein termination (p.Trp202*). To our knowledge, this variant has not been reported in the literature. This variant resides in the final exon of this gene, and it is unclear if the resulting mRNA would undergo nonsense-mediated decay. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD and has conflicting classifications listed in ClinVar ranging from uncertain significance to pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/943429/). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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