ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.70G>A (p.Gly24Ser)

dbSNP: rs563151154
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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 RCV001889255 SCV002166083 uncertain significance Hypercholesterolemia, familial, 4 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 24 of the LDLRAP1 protein (p.Gly24Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with LDLRAP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002361170 SCV002666858 uncertain significance Cardiovascular phenotype 2024-05-02 criteria provided, single submitter clinical testing The p.G24S variant (also known as c.70G>A), located in coding exon 1 of the LDLRAP1 gene, results from a G to A substitution at nucleotide position 70. The glycine at codon 24 is replaced by serine, an amino acid with similar 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 RCV001889255 SCV004173356 uncertain significance Hypercholesterolemia, familial, 4 2023-04-11 criteria provided, single submitter clinical testing

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