ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)

gnomAD frequency: 0.00009  dbSNP: rs140466726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045553 SCV001209413 likely benign Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2024-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553124 SCV003702471 uncertain significance Inborn genetic diseases 2022-05-01 criteria provided, single submitter clinical testing The c.434A>G (p.Q145R) alteration is located in exon 5 (coding exon 4) of the SEC23B gene. This alteration results from a A to G substitution at nucleotide position 434, causing the glutamine (Q) at amino acid position 145 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736965 SCV004562913 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing

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