ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) (rs575453437)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000478104 SCV000342424 likely pathogenic not provided 2016-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000478104 SCV000564522 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing The V675I variant has been reported previously in association with ABCA4-related disorders (Duncker et al., 2015; Fujinami et al., 2013) with limited evidence to support pathogenicity. The V675I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The V675I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. However, another missense variant in a nearby residue (K678N) have been reported in the Human Gene Mutation Database in association with ABCA4-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000478104 SCV000608480 likely pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074658 SCV001240250 likely pathogenic Retinal dystrophy 2019-02-22 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000329208 SCV000598947 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research

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