ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met)

gnomAD frequency: 0.00116  dbSNP: rs149063473
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001396382 SCV001598112 likely benign not provided 2023-10-06 criteria provided, single submitter clinical testing
GeneDx RCV001396382 SCV001789872 likely benign not provided 2021-01-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803302 SCV002048848 likely benign Cole-Carpenter syndrome 2 2021-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552686 SCV003682254 uncertain significance Inborn genetic diseases 2022-08-01 criteria provided, single submitter clinical testing The c.2681C>T (p.T894M) alteration is located in exon 21 (coding exon 20) of the SEC24D gene. This alteration results from a C to T substitution at nucleotide position 2681, causing the threonine (T) at amino acid position 894 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003946038 SCV004774923 likely benign SEC24D-related disorder 2022-06-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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