ClinVar Miner

Submissions for variant NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter)

gnomAD frequency: 0.00001  dbSNP: rs777112652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000223953 SCV000930076 pathogenic Autosomal recessive nonsyndromic hearing loss 32 2018-11-05 criteria provided, single submitter curation This variant is interpreted as a Pathogenic for Deafness, autosomal recessive 32, with or without immotile sperm. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1-Strong : PVS1 downgraded in strength to Strong. PP1-Strong : Segregation data PP1 upgraded to strong (PMID:27259055).
GeneDx RCV002259325 SCV002538833 pathogenic not provided 2022-02-09 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 27259055, 31906439)
OMIM RCV000223953 SCV000280585 pathogenic Autosomal recessive nonsyndromic hearing loss 32 2018-08-03 no assertion criteria provided literature only

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