ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.64T>C (p.Trp22Arg)

dbSNP: rs1057515535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305568 SCV000357043 uncertain significance Hypercholesterolemia, familial, 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002365343 SCV002659185 uncertain significance Cardiovascular phenotype 2022-02-11 criteria provided, single submitter clinical testing The p.W22R variant (also known as c.64T>C), located in coding exon 1 of the LDLRAP1 gene, results from a T to C substitution at nucleotide position 64. The tryptophan at codon 22 is replaced by arginine, an amino acid with 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.
Genome-Nilou Lab RCV000305568 SCV004173301 uncertain significance Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing

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