ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.151G>T (p.Gly51Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002392407 SCV002708160 uncertain significance Cardiovascular phenotype 2022-08-16 criteria provided, single submitter clinical testing The p.G51C variant (also known as c.151G>T), located in coding exon 1 of the PCSK9 gene, results from a G to T substitution at nucleotide position 151. The glycine at codon 51 is replaced by cysteine, an amino acid with highly 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.
All of Us Research Program, National Institutes of Health RCV004808309 SCV005431355 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2024-03-05 criteria provided, single submitter clinical testing

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