ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2115T>G (p.Phe705Leu)

gnomAD frequency: 0.00002  dbSNP: rs747520197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002418627 SCV002726010 uncertain significance Cardiovascular phenotype 2023-07-12 criteria provided, single submitter clinical testing The p.F705L variant (also known as c.2115T>G), located in coding exon 15 of the APOB gene, results from a T to G substitution at nucleotide position 2115. The phenylalanine at codon 705 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002491537 SCV002781745 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002491537 SCV003450559 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-02 criteria provided, single submitter clinical testing

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