ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1108A>T (p.Asn370Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004993679 SCV005609346 likely pathogenic Cardiovascular phenotype 2024-11-29 criteria provided, single submitter clinical testing The p.N370Y variant (also known as c.1108A>T), located in coding exon 8 of the LDLR gene, results from an A to T substitution at nucleotide position 1108. The asparagine at codon 370 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Other variant(s) at the same codon, p.N370T (c.1109A>C) have been identified in individual(s) with features consistent with familial hypercholesterolemia (Bertolini S et al. Arterioscler Thromb Vasc Biol, 2000 Sep;20:E41-52; Bertolini S et al. Atherosclerosis, 2013 Apr;227:342-8). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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