ClinVar Miner

Submissions for variant NM_001042702.5(PJVK):c.212-12C>A

gnomAD frequency: 0.00003  dbSNP: rs199967536
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Total submissions: 3
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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 RCV000150397 SCV000197571 uncertain significance not specified 2013-11-19 criteria provided, single submitter clinical testing The 212-12C>A variant in DFNB59 has not been previously reported in individuals with hearing loss, but has been identified in 1/8132 (0.01%) European American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs199967536). Although this variant has been seen in the general popu lation, its frequency is not high enough to rule out a pathogenic role. This var iant is located in the 3' splice region. Computational tools do not suggest an i mpact to splicing; however, this information is not predictive enough to rule ou t pathogenicity. In summary, additional data is needed to determine the clinical significance of this variant.
Illumina Laboratory Services, Illumina RCV001133844 SCV001293558 uncertain significance Autosomal recessive nonsyndromic hearing loss 59 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV002514891 SCV002931486 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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