ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.186T>C (p.Ile62=)

gnomAD frequency: 0.00018  dbSNP: rs200239508
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Total submissions: 4
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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 RCV000152557 SCV000201782 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing p.Ile62Ile in Exon 3 of USH1C: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 24/66358 of Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs200239508).
GeneDx RCV000842340 SCV000984352 likely benign not provided 2021-02-19 criteria provided, single submitter clinical testing
Invitae RCV000842340 SCV001089821 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106431 SCV001263496 uncertain significance Usher syndrome type 1C 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.

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