Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238393 | SCV000295726 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
3billion | RCV000238393 | SCV003841342 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.96; 3Cnet: 0.97). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with LDLR related disorder (ClinVar ID: VCV000252093 / PMID: 16159606). However, the evidence of pathogenicity is insufficient at this time. A different missense change at the same codon (p.Asp622Asn) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000252092). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |