ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.76G>A (p.Ala26Thr)

gnomAD frequency: 0.00001  dbSNP: rs1553135400
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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 RCV004023448 SCV004095328 uncertain significance Cardiovascular phenotype 2023-08-28 criteria provided, single submitter clinical testing The c.76G>A (p.A26T) alteration is located in exon 1 (coding exon 1) of the PCSK9 gene. This alteration results from a G to A substitution at nucleotide position 76, causing the alanine (A) at amino acid position 26 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056100 SCV005726860 uncertain significance not specified 2024-11-10 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508903 SCV000606674 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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