Submissions for variant NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) (rs201160833)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000178916	SCV000231096	uncertain significance	not provided	2014-06-12	criteria provided, single submitter	clinical testing
Invitae	RCV001071842	SCV001237170	uncertain significance	Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	2019-12-06	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 190 of the SEC23B protein (p.Arg190Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs201160833, ExAC 0.03%). This variant has been observed in the heterozygous state in an individual with dyserythropoietic anemia (PMID: 29901818). ClinVar contains an entry for this variant (Variation ID: 197785). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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	RCV001141445	SCV001301789	uncertain significance	Congenital dyserythropoietic anemia, type II	2018-01-13	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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