ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) (rs61754024)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085446 SCV000608481 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085446 SCV000700703 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000085446 SCV000321342 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ABCA4 gene. The V643G variant has been published previously in association with ABCA4-related disorders; however, the variant was only reported in the heterozygous state and was not observed with other pathogenic ABCA4 variants (Allikmets et al., 1997; Ścieżyńska et al., 2015; Rosenberg et al., 2007). The NHLBI Exome Sequencing Project reports V643G was observed in 24/8600 (0.28%) alleles from individuals of Europeean background, and the 1000 Genomes Project Consortium reports the variant was observed in 5/1006 (0.50%) alleles from individuals of European background, indicating it may be a rare variant in this population. The variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408583 SCV000281837 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085446 SCV000117583 not provided not provided no assertion provided not provided

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