ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.221+163A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003801871 SCV004597259 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2023-11-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587563 SCV005076394 uncertain significance not specified 2024-04-26 criteria provided, single submitter clinical testing Variant summary: SEC23B c.221+163A>G is located at a position not widely known to affect splicing. Several computational tools predict a significant impact on normal splicing: Two predict the variant strengthens a cryptic 5' donor site. Two predict the variant creates a cryptic 5' donor site. At-least one study reported this variant may affect splicing however did not provide convincing conclusions about the variant effect (example: Russo_2013). The variant allele was found at a frequency of 4.6e-05 in 152204 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.221+163A>G has been reported in the literature in at-least one individual affected with Congenital dyserythropoietic anemia type II (example: Russo_2013). These data do not allow any conclusion about variant significance. The following publication has been ascertained in the context of this evaluation (PMID: 23453696). ClinVar contains an entry for this variant (Variation ID: 2949145). Based on the evidence outlined above, the variant was classified as uncertain significance.

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