ClinVar Miner

Submissions for variant NM_015627.3(LDLRAP1):c.614G>A (p.Ser205Asn)

gnomAD frequency: 0.00001  dbSNP: rs750330964
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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 RCV001220268 SCV001392248 uncertain significance Hypercholesterolemia, familial, 4 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 205 of the LDLRAP1 protein (p.Ser205Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs750330964, ExAC 0.01%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004994342 SCV005609383 uncertain significance Cardiovascular phenotype 2024-08-27 criteria provided, single submitter clinical testing The c.614G>A (p.S205N) alteration is located in exon 6 (coding exon 6) of the LDLRAP1 gene. This alteration results from a G to A substitution at nucleotide position 614, causing the serine (S) at amino acid position 205 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833914 SCV002085938 uncertain significance Familial hypercholesterolemia 2020-09-19 no assertion criteria provided clinical testing

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