ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) (rs1591284438)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology RCV000993690 SCV001142138 uncertain significance Diaphyseal dysplasia; Brachycephaly; Osteopenia; Diaphyseal sclerosis; Elevated alkaline phosphatase; Hypoplastic acetabulae; Vitamin D deficiency 2020-01-01 criteria provided, single submitter clinical testing The c.1618C>T variant is not present in publicly available databases like Exome Variant Server (EVS), 1000 Genomes, Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is also not present in our in-house exome database. The variant was not reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in other affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD etc. predicted this variant as likely deleterious, however no functional studies were performed. Due to lack of enough evidence for the pathogenicity of the variant and also considering the phenotype of the patient the variant has been classified as uncertain significance.

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