ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1653G>T (p.Leu551Phe)

gnomAD frequency: 0.00001  dbSNP: rs1416270515
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937849 SCV002180856 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 551 of the LRP2 protein (p.Leu551Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LRP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1407666). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LRP2 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.
GeneDx RCV001937849 SCV002770409 uncertain significance not provided 2023-03-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002478354 SCV002789350 uncertain significance Donnai-Barrow syndrome 2022-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555696 SCV003724474 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.1653G>T (p.L551F) alteration is located in exon 13 (coding exon 13) of the LRP2 gene. This alteration results from a G to T substitution at nucleotide position 1653, causing the leucine (L) at amino acid position 551 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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