ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.689+1G>A (rs398124226)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081409 SCV000113340 pathogenic not provided 2012-09-05 criteria provided, single submitter clinical testing
Invitae RCV000689848 SCV000817517 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2017-10-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the SEC23B gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs398124226, ExAC 0.006%). This variant has been reported in the compound heterozygous state in individuals affected with congenital dyserythropoietic anemia type II (PMID: 19561605, 19621418). ClinVar contains an entry for this variant (Variation ID: 95389). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SEC23B are known to be pathogenic (PMID: 19561605, 25044164). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195753 SCV001366173 likely pathogenic Epicanthus; Hypertelorism; Global developmental delay; Low-set ears; Abnormality of the kidney; Pes planus; 2-3 toe syndactyly; Delayed speech and language development; Single transverse palmar crease; Delayed gross motor development; Abnormal social behavior; Muscular hypotonia 2020-03-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PVS1. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195899 SCV001366323 pathogenic Inborn errors of metabolism 2019-04-02 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in heterozygous state.

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