ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys)

gnomAD frequency: 0.00001  dbSNP: rs398124227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081410 SCV000113341 likely pathogenic not provided 2014-02-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000081410 SCV003819263 uncertain significance not provided 2021-05-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700394 SCV005203671 uncertain significance not specified 2024-07-05 criteria provided, single submitter clinical testing Variant summary: SEC23B c.742G>A (p.Glu248Lys) results in a conservative amino acid change located in the Sec23/Sec24, trunk domain (IPR006896) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251454 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.742G>A has been reported in the literature as a compound heterozygous genotype in at-least one individual affected with Congenital dyserythropoietic anemia, type II (example, Jones_2013 overlapping with Song_2014). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 23806237, 24801741). ClinVar contains an entry for this variant (Variation ID: 95390). Based on the evidence outlined above, the variant was classified as uncertain significance.

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