ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11441C>A (p.Thr3814Asn)

gnomAD frequency: 0.00002  dbSNP: rs768822240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329226 SCV001520603 uncertain significance Familial hypobetalipoproteinemia 1 2019-09-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002451379 SCV002612907 uncertain significance Cardiovascular phenotype 2016-12-13 criteria provided, single submitter clinical testing The p.T3814N variant (also known as c.11441C>A), located in coding exon 26 of the APOB gene, results from a C to A substitution at nucleotide position 11441. The threonine at codon 3814 is replaced by asparagine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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