ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1549G>A (p.Val517Met)

gnomAD frequency: 0.00001  dbSNP: rs770524674
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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 RCV001891482 SCV002165603 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 517 of the LRP2 protein (p.Val517Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1395826). 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 RCV002478291 SCV002776175 uncertain significance Donnai-Barrow syndrome 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555236 SCV003576310 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.1549G>A (p.V517M) alteration is located in exon 12 (coding exon 12) of the LRP2 gene. This alteration results from a G to A substitution at nucleotide position 1549, causing the valine (V) at amino acid position 517 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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