ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) (rs62642573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408552 SCV000281879 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778257 SCV000914429 likely pathogenic ABCA4-Related Disorders 2019-01-09 criteria provided, single submitter clinical testing The ABCA4 c.4195G>T (p.Glu1399Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The variant has been reported in three studies in which it is identified in a compound heterozygous state in six individuals with Stargardt disease (Rivera et al. 2000; Xin et al. 2015; Schulz et al. 2017). Three of these individuals are siblings and carry the p.Glu1399Ter variant and a reported pathogenic missense variant, each inherited from one of their unaffected carrier parents (Xin et al. 2015). The variant has not been reported in the literature in association with autosomal recessive cone rod dystrophy, autosomal recessive retinitis pigmentosa, or autosomal dominant macular degeneration. The p.Glu1399Ter variant was absent from 632 control subjects and is reported at a frequency of 0.000174 in the East Asian population of the Genome Aggregation Database. Based on the evidence and the potential impact of stop-gained variants, the p.Glu1399Ter variant is classified as likely pathogenic for ABCA4-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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