ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala)

dbSNP: rs879255060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation 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.

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