ClinVar Miner

Submissions for variant NM_173648.4(CCDC141):c.1225C>T (p.Gln409Ter)

gnomAD frequency: 0.00007  dbSNP: rs143025382
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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 RCV000915857 SCV001061078 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003432909 SCV004117008 uncertain significance CCDC141-related disorder 2023-09-18 criteria provided, single submitter clinical testing The CCDC141 c.1225C>T variant is predicted to result in premature protein termination (p.Gln409*). This variant has been reported in three individuals with hypogonadotropic hypogonadism or Kallmann syndrome; however, at least two of them also carry variants in other genes (Hou et al 2020. PubMed ID: 32520725). This variant is reported in 0.28% of alleles in individuals of East Asian descent in gnomAD including 1 homozygote (http://gnomad.broadinstitute.org/variant/2-179770096-G-A). 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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