ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9947C>G (p.Ser3316Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003335992 SCV004046457 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004334147 SCV005035203 uncertain significance Cardiovascular phenotype 2023-12-02 criteria provided, single submitter clinical testing The p.S3316C variant (also known as c.9947C>G), located in coding exon 26 of the APOB gene, results from a C to G substitution at nucleotide position 9947. The serine at codon 3316 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. 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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