ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.248+7_248+20del (rs749047869)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220457 SCV000271149 likely benign not specified 2015-04-22 criteria provided, single submitter clinical testing c.248+7_248+20del in intron 3 of USH1C: This variant is not expected to have cl inical significance because it is not located within the splice consensus sequen ce and it is not predicted to impact splicing.
Invitae RCV001059559 SCV001224186 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the USH1C gene. It does not directly change the encoded amino acid sequence of the USH1C protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 228195). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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