ClinVar Miner

Submissions for variant NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg)

dbSNP: rs571098288
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825295 SCV000966590 uncertain significance not specified 2019-03-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gly10Arg variant in CDC14A has not been previously reported in individuals with hearing loss, but has been identified in 0.13% (41/30616) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of this variant is uncertain, its frequency suggests it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.
GeneDx RCV001559818 SCV001782118 likely benign not provided 2019-01-22 criteria provided, single submitter clinical testing

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