ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2724C>G (p.His908Gln)

gnomAD frequency: 0.00011  dbSNP: rs143539498
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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 RCV001064163 SCV001229045 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001064163 SCV004137098 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing LRP5: BP4
Ambry Genetics RCV004030526 SCV004899343 uncertain significance Inborn genetic diseases 2023-10-27 criteria provided, single submitter clinical testing The c.2724C>G (p.H908Q) alteration is located in exon 12 (coding exon 12) of the LRP5 gene. This alteration results from a C to G substitution at nucleotide position 2724, causing the histidine (H) at amino acid position 908 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844850 SCV001877024 likely benign Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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