ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.13919A>T (p.Asp4640Val)

gnomAD frequency: 0.00002  dbSNP: rs760457856
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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 RCV001898332 SCV002159950 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 4640 of the LRP2 protein (p.Asp4640Val). This variant is present in population databases (rs760457856, gnomAD 0.03%). 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: 1393607). 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) performed at Invitae indicates that this missense variant is expected to disrupt 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.
Fulgent Genetics, Fulgent Genetics RCV002506979 SCV002814143 uncertain significance Donnai-Barrow syndrome 2022-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041487 SCV004897463 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.13919A>T (p.D4640V) alteration is located in exon 79 (coding exon 79) of the LRP2 gene. This alteration results from a A to T substitution at nucleotide position 13919, causing the aspartic acid (D) at amino acid position 4640 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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