ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) (rs1553186514)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000596944 SCV000703130 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing
Invitae RCV000596944 SCV001399293 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 2072 of the ABCA4 protein (p.Ser2072Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Stargardt and other retinal diseases (PMID: 25312043, 29555955). ClinVar contains an entry for this variant (Variation ID: 498228). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000596944 SCV001446895 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000596944 SCV001782330 pathogenic not provided 2020-08-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29555955, 25312043)

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