ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1086-13G>T (rs200490320)

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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 RCV000152554 SCV000201769 likely benign not specified 2015-05-17 criteria provided, single submitter clinical testing c.1086-13G>T in intron 13 of USH1C: This variant is not expected to have clinica l significance because it is not located in the invariant -1/-2 positions of the splice consensus sequence, computational tools do not predict an impact to spli cing, and it has been identified in 0.1% (84/66730) of European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2 00490320). This variant has also been reported in one study of Usher sydnrome pa tients; however the authors classified it as an "unclassified variant- probably neutral" due to either its presence in a proband who already had two other causa tive variants or because it did not segregate with disease (Le Quesne Stabej 201 2).
Illumina Clinical Services Laboratory,Illumina RCV000271322 SCV000369491 uncertain significance Usher syndrome, type 1C 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.
Illumina Clinical Services Laboratory,Illumina RCV000307769 SCV000369492 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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