ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3916G>T (p.Ala1306Ser)

dbSNP: rs748395267
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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 RCV001859421 SCV002264604 uncertain significance not provided 2021-07-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 1306 of the LRP5 protein (p.Ala1306Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). 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 LRP5 protein function. This variant has not been reported in the literature in individuals affected with LRP5-related conditions.
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844902 SCV001877036 likely benign Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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