ClinVar Miner

Submissions for variant NM_002336.3(LRP6):c.615C>A (p.Phe205Leu)

gnomAD frequency: 0.00004  dbSNP: rs148780507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003771823 SCV004635205 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt LRP6 protein function. ClinVar contains an entry for this variant (Variation ID: 1255582). This variant has not been reported in the literature in individuals affected with LRP6-related conditions. This variant is present in population databases (rs148780507, gnomAD 0.006%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 205 of the LRP6 protein (p.Phe205Leu).
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844911 SCV001877044 uncertain significance Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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