ClinVar Miner

Submissions for variant NM_000119.3(EPB42):c.1699G>A (p.Ala567Thr) (rs45495503)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000258852 SCV000914674 uncertain significance Spherocytosis type 5 2018-12-04 criteria provided, single submitter clinical testing The EPB42 c.1699G>A (p.Ala567Thr) variant is a missense variant that has been reported in a compound heterozygous state with a splice donor variant in one individual with spherocytosis (Maciag et al. 2009). This variant was absent from at least 50 healthy control individuals but is reported at a frequency of 0.002544 in the Ashkenazi Jewish population of the Genome Aggregation Database. Expression studies demonstrated a 45% decrease in EPB42 mRNA expression in peripheral blood from the patient compared to that from healthy individuals. The evidence for this variant is limited. The p.Ala567Thr variant is thus classified as of uncertain significance but suspicious for pathogenicity for spherocytosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000258852 SCV000328587 uncertain significance Spherocytosis type 5 2016-11-10 no assertion criteria provided literature only

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