ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.243C>T (p.Arg81=)

gnomAD frequency: 0.25678  dbSNP: rs219779
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Total submissions: 6
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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 RCV000037060 SCV000060716 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Arg81Arg in Exon 03 of CLDN14: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 31.1% (1163/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs219779)."
PreventionGenetics, part of Exact Sciences RCV000037060 SCV000306883 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288816 SCV000435970 benign Autosomal recessive nonsyndromic hearing loss 29 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000037060 SCV000716498 benign not specified 2017-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000288816 SCV001806687 benign Autosomal recessive nonsyndromic hearing loss 29 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV002054633 SCV002401821 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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