ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) (rs149071415)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047033 SCV001210965 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 938 of the ABCA4 protein (p.Phe938Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs149071415, ExAC 0.05%). This variant has been observed in individuals affected with ABCA4-related conditions (PMID: 28041643, 29925512). ClinVar contains an entry for this variant (Variation ID: 438091). 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.
Blueprint Genetics RCV000504891 SCV001240414 pathogenic Retinal dystrophy 2019-07-11 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504891 SCV000598953 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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