ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.46A>C (p.Ser16Arg)

dbSNP: rs1218572882
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998842 SCV002276902 uncertain significance Hypercholesterolemia, familial, 4 2022-07-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1483562). This variant has not been reported in the literature in individuals affected with LDLRAP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 16 of the LDLRAP1 protein (p.Ser16Arg).
Ambry Genetics RCV002331568 SCV002633931 uncertain significance Cardiovascular phenotype 2021-03-12 criteria provided, single submitter clinical testing The p.S16R variant (also known as c.46A>C), located in coding exon 1 of the LDLRAP1 gene, results from an A to C substitution at nucleotide position 46. The serine at codon 16 is replaced by arginine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001998842 SCV004172958 uncertain significance Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing

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