ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.644del (p.Lys215fs)

dbSNP: rs1567940040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778514 SCV000914792 uncertain significance Usher syndrome type 1G 2018-11-22 criteria provided, single submitter clinical testing The USH1G c.644delA (p.Lys215ArgfsTer39) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database in a region of good sequencing coverage. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Lys215ArgfsTer39 variant is classified as a variant of unknown significance but suspicious for pathogenicity for Usher syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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