ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.755del (p.Gly252fs)

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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 RCV001093109 SCV001249935 pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095734 SCV001251575 likely pathogenic Posterior column ataxia-retinitis pigmentosa syndrome 2020-01-15 criteria provided, single submitter clinical testing The FLVCR1 c.755delG (p.Gly252AlafsTer8) variant results in a frameshift and is expected to result in premature termination of the protein. The variant has been reported in two studies in which it is found in a compound heterozygous state in three individuals with atypical forms of retinitis pigmentosa with the same splice variant on the second allele (Glockle et al. 2014; Kuehlewein et al. 2019). Control data are unavailable for this variant which is found at a frequency of 0.000035 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the expected truncating nature of the variant, presence at a low frequency in population databases and in at least three affected individuals in the literature, the p.Gly252AlafsTer8 variant is classified as likely pathogenic for posterior column ataxia with retinitis pigmentosa.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001093109 SCV001447661 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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