ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter) (rs142475663)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778205 SCV000914370 uncertain significance Age-related macular degeneration 1 2018-10-26 criteria provided, single submitter clinical testing The HMCN1 c.8776C>T (p.Arg2926Ter) variant is a stop gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene and cDNA change. No publications were found based on this search. The p.Arg2926Ter variant is found at a frequency of 0.00004 in the European (non-Finnish) population of the Genome Aggregation Database. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Arg2926Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for macular degeneration. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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