ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2525del (p.Pro842fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356182 SCV001551275 uncertain significance not provided no assertion criteria provided clinical testing The USH1C p.Pro842Glnfs*8 variant was not identified in the literature nor was it identified in ClinVar, Cosmic or LOVD 3.0. The variant was identified in dbSNP (ID: rs755095611) and in control databases in 1 of 251314 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European (non-Finnish) population in 1 of 113674 chromosomes (freq: 0.000009) but was not observed in the African, Latino, Ashkenazi Jewish, East Asian, European (Finnish), Other or South Asian populations. The c.2525del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 842 and leads to a premature stop codon eight amino acids downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the USH1C gene are an established mechanism of disease in Usher syndrome type 1C. However, this variant occurs in the last 50bp of penultimate exon and would remove less than 10% of the protein, therefore it is unclear at this time whether this variant would cause loss of function to the USH1C protein. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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