ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) (rs377311148)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000296428 SCV000281930 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790718 SCV000331903 likely pathogenic not provided 2015-09-10 criteria provided, single submitter clinical testing
Invitae RCV000790718 SCV001582797 pathogenic not provided 2020-06-20 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1850 of the ABCA4 protein (p.Leu1850Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs377311148, ExAC 0.002%). This variant has been observed in individual(s) with clinical features of autosomal recessive Stargardt disease (PMID:23755871, 28559085, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 197055). 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. For these reasons, this variant has been classified as Pathogenic.

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