ClinVar Miner

Submissions for variant NM_014989.5(RIMS1):c.3430C>T (p.Arg1144Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093178 SCV001250033 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001163481 SCV001325528 likely benign Cone-rod dystrophy 7 2018-01-13 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001093178 SCV001385778 uncertain significance not provided 2020-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1144*) in the RIMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs202076893, ExAC 0.05%). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 23591405). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 872603). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RIMS1 cause disease. 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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