ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.616+5G>A (rs138768408)

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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, Partners HealthCare Personalized Medicine RCV000039361 SCV000063045 uncertain significance not specified 2015-12-31 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.616+5G>A vari ant in TMPRSS3 has been reported by our laboratory in 1 Caucasian individual wit h hearing loss, who was compound heterozygous for 2 pathogenic variants in USH2A , which likely explained this individual's hearing loss. This variant has been identified in 30/65986 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs138768408). Although it has been seen in the general population, its frequency is not high enough to rule out a p athogenic role. This variant is located in the 5' splice region. Computational t ools do not suggest an impact to splicing. However, this information is not pred ictive enough to rule out pathogenicity. In summary, while the clinical signific ance of the c.616+5G>A variant is uncertain, these data suggest that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000365191 SCV000436169 uncertain significance Deafness, autosomal recessive 8 2018-01-13 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.
GeneDx RCV001731334 SCV001982376 uncertain significance not provided 2021-09-20 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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