ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1665+6T>C (rs371786580)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692503 SCV000820329 uncertain significance Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2019-08-22 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the SEC23B gene. It does not directly change the encoded amino acid sequence of the SEC23B protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs371786580, ExAC 0.09%). This variant has not been reported in the literature in individuals with SEC23B-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Illumina Clinical Services Laboratory,Illumina RCV001141559 SCV001301913 uncertain significance Congenital dyserythropoietic anemia, type II 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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